ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.1540C>T (p.His514Tyr) (rs878854036)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000230656 SCV000285074 uncertain significance Lynch syndrome 2015-11-02 criteria provided, single submitter clinical testing This sequence change replaces histidine with tyrosine at codon 514 of the PMS2 protein (p.His514Tyr). The histidine residue is weakly conserved and there is a moderate physicochemical difference between histidine and tyrosine. 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies. In summary, this is a novel missense change that is not predicted to affect protein function or cause disease. However the evidence is insufficient at this time to prove that conclusively. It has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV000565173 SCV000670823 uncertain significance Hereditary cancer-predisposing syndrome 2016-10-31 criteria provided, single submitter clinical testing Insufficient evidence

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