ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.5221G>A (p.Val1741Ile)

dbSNP: rs876659122
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000214759 SCV000275204 likely benign Hereditary cancer-predisposing syndrome 2020-07-16 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Color Diagnostics, LLC DBA Color Health RCV000214759 SCV001345184 uncertain significance Hereditary cancer-predisposing syndrome 2019-06-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001245538 SCV001418833 uncertain significance Hereditary breast ovarian cancer syndrome 2023-05-16 criteria provided, single submitter clinical testing This variant is present in population databases (no rsID available, gnomAD 0.007%). 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. Experimental studies have shown that this missense change does not substantially affect BRCA1 function (PMID: 30209399). 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: 231376). This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 1741 of the BRCA1 protein (p.Val1741Ile).
Brotman Baty Institute, University of Washington RCV001076641 SCV001242430 not provided Breast-ovarian cancer, familial, susceptibility to, 1 no assertion provided in vitro

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