ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.331C>G (p.Leu111Val) (rs864622232)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000204177 SCV000259795 uncertain significance Lynch syndrome 2015-08-05 criteria provided, single submitter clinical testing This sequence change replaces leucine with valine at codon 111 of the PMS2 protein (p.Leu111Val). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and valine. This variant is not present in population databases and has not been published in the literature. 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. 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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