ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.2437G>A (p.Gly813Arg)

dbSNP: rs80357186
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000686164 SCV000813668 uncertain significance Hereditary breast ovarian cancer syndrome 2023-08-25 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. 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 of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt BRCA1 protein function. ClinVar contains an entry for this variant (Variation ID: 566372). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 813 of the BRCA1 protein (p.Gly813Arg).
Color Diagnostics, LLC DBA Color Health RCV000773714 SCV000907413 uncertain significance Hereditary cancer-predisposing syndrome 2019-04-07 criteria provided, single submitter clinical testing
University of Washington Department of Laboratory Medicine, University of Washington RCV000773714 SCV003847668 likely benign Hereditary cancer-predisposing syndrome 2023-03-23 criteria provided, single submitter curation Missense variant in a coldspot region where missense variants are very unlikely to be pathogenic (PMID:31911673).

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