Patient record

VP-10617

5-11 · Male · Macrocephaly with developmental delay

HighClassification drift

The interpretation moved across the clinically actionable boundary since this result was reported.

2022 · On file

Uncertain significance

Reported 5 Dec 2022

Science evolves

Today · ClinVar

Pathogenic

ClinVar last evaluated 9 Feb 2024 · Reviewed by expert panel

Patient summary

Record: VP-10617
Age band: 5-11
Sex: Male
Test date: 5 Dec 2022
Reporting laboratory: Molecular Pathology Unit
Ordering department: Paediatric Genetics
Clinical owner: Dr. S. Aziz
Last contact: 12 Jun 2023
Indication: Macrocephaly with developmental delay

Synthetic record. No identifiers in this workspace correspond to a real person.

Historical finding

ClinVar

PTENc.149T>C (p.Ile50Thr)

Panel: Hereditary cancer panel
Condition: PTEN hamartoma tumour syndrome
ClinVar: VCV000492727
dbSNP: rs1554893824
As reported: Uncertain significance
Reported on: 5 Dec 2022

Missense change reported by a single submitter as uncertain significance.

Current interpretation

Read from ClinVar at the last evidence sync.

Classification: Pathogenic
Consensus status: Reviewed by expert panel
Evidence confidence: Strong3 of 4 review criteria met
Last evaluated: 9 Feb 2024
Submissions: 9
Molecular consequence: missense variant
Variant type: single nucleotide variant
Location: chr10:87894094 (GRCh38)

Evidence summary

Decision support

Since the 2022 report, the consensus for PTEN c.149T>C has moved from uncertain significance to pathogenic. That reading rests on 9 submissions at strong review confidence, reviewed by expert panel. That crosses the clinically actionable boundary, so management guidance issued on the original interpretation may no longer be the right guidance. One record on file carries this variant and has not yet been reassessed.

Composed from the structured fields of the records cited on this page. Requires clinical verification before it informs any decision.

How VariantPulse reached this resultEight steps, each one inspectable

1Historical record retrievedPTEN c.149T>C reported as Uncertain significance on 2022-12-05.
2Variant normalisedResolved to ClinVar VCV000492727 (rs1554893824) and keyed as PTEN:c.149T>C.
3Current evidence retrievedRead live from ClinVar: Pathogenic, 9 submissions, reviewed by expert panel.
4Classification difference detectedRecorded interpretation normalised to Uncertain significance. Current interpretation normalised to Pathogenic. The interpretation crossed into the clinically actionable band, so records carrying it may need review.
5Regional sources comparedNo regional evidence is held for this variant.
6Impacted records identified12,482 findings checked; 1 carries this variant.
7Evidence brief generatedComposed from the structured fields of the cited records above.
8Human review requestedVariantPulse does not change any record. A clinician decides what happens next.

How the interpretation changed

PTEN c.149T>C. The DNA is unchanged. The evidence around it is not.

2022Genetic test performedFirst record on file carrying PTEN c.149T>C.
2022Reported as uncertain significanceMissense change reported by a single submitter as uncertain significance.
2023Further literature published2 indexed publications appeared after the original report.
2024Submissions accumulated9 independent submissions now contribute to the classification.
2024Classification now pathogenicLast evaluated 9 Feb 2024 · Reviewed by expert panel.
TodayVariantPulse identified the affected recordsOne historical record carries this variant and was flagged for clinical review.

Decision support only. Final interpretation remains with the qualified clinical team.