ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.5114T>G (p.Leu1705Arg) (rs397507242)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000233568 SCV000289821 uncertain significance Hereditary breast and ovarian cancer syndrome 2015-11-25 criteria provided, single submitter clinical testing This sequence change replaces leucine with arginine at codon 1705 of the BRCA1 protein (p.Leu1705Arg). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and arginine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, this is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.
Brotman Baty Institute,University of Washington RCV001076407 SCV001242150 not provided Breast-ovarian cancer, familial 1 no assertion provided in vitro

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