ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.170G>C (p.Gly57Ala) (rs1597900455)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000985372 SCV001133493 uncertain significance not provided 2019-05-31 criteria provided, single submitter clinical testing
Invitae RCV001215723 SCV001387483 uncertain significance Hereditary breast and ovarian cancer syndrome 2019-07-03 criteria provided, single submitter clinical testing This sequence change replaces glycine with alanine at codon 57 of the BRCA1 protein (p.Gly57Ala). The glycine residue is highly conserved and there is a small physicochemical difference between glycine and alanine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with BRCA1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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 RCV001076703 SCV001242502 not provided Breast-ovarian cancer, familial 1 no assertion provided in vitro

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