ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.5378A>G (p.Lys1793Arg)

dbSNP: rs730881446
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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 RCV002557889 SCV003225814 uncertain significance Hereditary breast ovarian cancer syndrome 2022-08-16 criteria provided, single submitter clinical testing Advanced modeling of experimental studies (such as gene expression, population dynamics, functional pathways, and cell-cycle effects in cell culture) performed at Invitae indicates that this missense variant is not expected to disrupt BRCA1 protein function. This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 1793 of the BRCA1 protein (p.Lys1793Arg). 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: 865396). Experimental studies have shown that this missense change does not substantially affect BRCA1 function (PMID: 30209399). 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 RCV001072809 SCV001238257 not provided Breast-ovarian cancer, familial, susceptibility to, 1 no assertion provided in vitro

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