ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.1021G>A (p.Val341Ile) (rs863224797)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000197282 SCV000255142 uncertain significance Familial cancer of breast 2015-04-22 criteria provided, single submitter clinical testing This sequence change replaces valine with isoleucine at codon 341 of the BRIP1 protein (p.Val341Ile). The valine residue is highly conserved and there is a small physicochemical difference between valine and isoleucine. This variant 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies. However, the isoleucine amino acid is seen in multiple other mammalian species suggesting that the isoleucine residue is not detrimental to BRIP1 protein function. 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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