ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.4897A>C (p.Ser1633Arg) (rs1555580711)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000637623 SCV000759089 uncertain significance Hereditary breast and ovarian cancer syndrome 2019-03-19 criteria provided, single submitter clinical testing This sequence change replaces serine with arginine at codon 1633 of the BRCA1 protein (p.Ser1633Arg). The serine residue is moderately conserved and there is a moderate physicochemical difference between serine and arginine. 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 disease. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
Ambry Genetics RCV001023212 SCV001185057 uncertain significance Hereditary cancer-predisposing syndrome 2018-04-03 criteria provided, single submitter clinical testing Insufficient evidence
Brotman Baty Institute,University of Washington RCV001073122 SCV001238625 not provided Breast-ovarian cancer, familial 1 no assertion provided in vitro

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