ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.5259A>T (p.Arg1753Ser) (rs771577266)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000472087 SCV000549422 uncertain significance Hereditary breast and ovarian cancer syndrome 2016-08-24 criteria provided, single submitter clinical testing This sequence change replaces arginine with serine at codon 1753 of the BRCA1 protein (p.Arg1753Ser). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and serine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a BRCA1-related disease. 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: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C65"). Algorithms developed to predict the effect of nucleotide changes on mRNA splicing suggest that this missense variant may alter RNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this variant 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 RCV001075941 SCV001241600 not provided Breast-ovarian cancer, familial 1 no assertion provided in vitro

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