ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.5231G>A (p.Arg1744Lys) (rs1567764460)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000693156 SCV000821012 uncertain significance Hereditary breast and ovarian cancer syndrome 2019-11-24 criteria provided, single submitter clinical testing This sequence change replaces arginine with lysine at codon 1744 of the BRCA1 protein (p.Arg1744Lys). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and lysine. 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. ClinVar contains an entry for this variant (Variation ID: 571901). This variant has been reported not to substantially affect BRCA1 protein 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 RCV001076653 SCV001242442 not provided Breast-ovarian cancer, familial 1 no assertion provided in vitro

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