ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.5284A>T (p.Arg1762Trp)

dbSNP: rs2051212335
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV005093435 SCV005732293 uncertain significance Hereditary breast ovarian cancer syndrome 2024-10-07 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 1762 of the BRCA1 protein (p.Arg1762Trp). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. ClinVar contains an entry for this variant (Variation ID: 867955). Invitae Evidence Modeling incorporating data from in vitro experimental studies (PMID: 30209399) indicates that this missense variant is not expected to disrupt BRCA1 function with a negative predictive value of 95%. 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.
Brotman Baty Institute, University of Washington RCV001076752 SCV001242570 not provided Breast-ovarian cancer, familial, susceptibility to, 1 no assertion provided in vitro

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