ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.4894G>A (p.Val1632Met)

gnomAD frequency: 0.00001  dbSNP: rs770193975
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000474239 SCV000549366 uncertain significance Hereditary breast ovarian cancer syndrome 2023-05-02 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 1632 of the BRCA1 protein (p.Val1632Met). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling performed at Invitae incorporating data from internal and/or published experimental studies (PMID: 30209399) indicates that this missense variant is not expected to disrupt BRCA1 function. ClinVar contains an entry for this variant (Variation ID: 409339). This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. This variant is present in population databases (rs770193975, gnomAD 0.0009%).
Color Diagnostics, LLC DBA Color Health RCV000774938 SCV000909005 uncertain significance Hereditary cancer-predisposing syndrome 2019-04-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV000774938 SCV002638870 likely benign Hereditary cancer-predisposing syndrome 2021-05-20 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Brotman Baty Institute, University of Washington RCV001072799 SCV001238246 not provided Breast-ovarian cancer, familial, susceptibility to, 1 no assertion provided in vitro

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