VariantPulseCached evidenceADr. A. Kassim, open settings
VariantPulseRegional evidence reaches a different conclusion from the global consensus.
2023 · On file
Uncertain significance
Reported 2 May 2023
Today · ClinVar
Uncertain significance
ClinVar last evaluated 3 Mar 2017 · Reviewed by expert panel
The changed variant and every historical record that carries it. Select a record to see its detail.
Variant
CFTR
c.601G>A
VUSVUS
VP-10987
Reviewed25-34 · Clinical Genetics
Global and regional evidence disagree on CFTR c.601G>A. The global consensus is uncertain significance, drawn from 21 submissions. The regional index asserts likely benign on 4 observations across a cohort of 3,030. 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.
Each source is shown as it reports itself. VariantPulse does not merge them into a single verdict.
| Source | Classification | Review level | Last updated | Strength | |
|---|---|---|---|---|---|
| ClinVar21 submissions on record. | Uncertain significance | Reviewed by expert panel | 3 Mar 2017 | Strong3 of 4 review criteria met | VCV000054022 |
| Population frequencyHighest reported allele frequency carried on the source record. | 0.00124 | Trans-Omics for Precision Medicine (TOPMed) | 3 Mar 2017 | Reference observation | |
| LiteraturePublications linked to this variant record. | 8 indexed publications | PubMed index | Latest 2024 | Supporting context | |
| Regional Evidence IndexModelled regional aggregation maintained inside this workspace | Likely benign | 4 regional observations | 2 Mar 2026 | Cohort 3,030 | |
| This institutionThe interpretation issued to the patient at the time of testing. | Uncertain significance | Internal report | 2 May 2023 | On record |
Cited publications
Global · ClinVar
Uncertain significancereviewed by expert panel · Last evaluated 3 Mar 2017
Regional · Regional Evidence Index
Likely benign4 observations in 3,030 · updated 2 Mar 2026
Human review required
VUS globally, Likely benign regionally. A clinician weighs both; neither source is treated as correct.
Global
Read from ClinVar, which aggregates submissions dominated by European-ancestry cohorts.
Regional
Modelled regional aggregation maintained inside this workspace.
VariantPulse analysis
The sources place this variant in different bands without crossing the actionable boundary. In gnomAD v4 this change is about four times more frequent in the Middle Eastern reference group than globally. Higher-than-expected population frequency is a recognised line of evidence toward a benign reading, but the Middle Eastern group is only about 3,000 people, so the signal is flagged for review rather than applied automatically.
VariantPulse recommends manual review due to conflicting interpretation across evidence sources. It does not rank one source above the other.
CFTR c.601G>A. The DNA is unchanged. The evidence around it is not.
A triage signal for the queue. Not a clinical risk score, and not a statement about any individual.
The same records as a list, for scanning and screen readers.
| Record | Age band | Test date | As reported | Current | Department | Clinical owner | Last contact | Review state | |
|---|---|---|---|---|---|---|---|---|---|
| VP-10987 | 25-34 | 2 May 2023 | VUS | VUS | Clinical Genetics | Dr. L. Haddad | Reviewed |