ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.2828T>C (p.Val943Ala) (rs786204143)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000168126 SCV000218783 uncertain significance Familial cancer of breast 2014-11-01 criteria provided, single submitter clinical testing This sequence change replaces valine with alanine at codon 943 of the BRIP1 protein (p.Val943Ala). The valine residue is moderately conserved and there is a small physicochemical difference between valine and alanine. This sequence change has not been published in the literature and is not present in population databases. 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 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.

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