ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.5300G>C (p.Cys1767Ser) (rs1597804426)

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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 RCV000985437 SCV001133622 uncertain significance not provided 2019-07-19 criteria provided, single submitter clinical testing
Invitae RCV001226562 SCV001398882 uncertain significance Hereditary breast and ovarian cancer syndrome 2019-10-02 criteria provided, single submitter clinical testing This sequence change replaces cysteine with serine at codon 1767 of the BRCA1 protein (p.Cys1767Ser). The cysteine residue is highly conserved and there is a moderate physicochemical difference between cysteine and serine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in individuals in the Leiden Open-source Variation Database (PMID: 21520333). This variant has been reported to have conflicting or insufficient data to determine the effect on BRCA1 protein function (PMID: 30209399, 23867111). 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 RCV001077168 SCV001243052 not provided Breast-ovarian cancer, familial 1 no assertion provided in vitro

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