ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.448C>T (p.Pro150Ser) (rs1060503120)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000467711 SCV000551962 uncertain significance Lynch syndrome 2016-08-07 criteria provided, single submitter clinical testing This sequence change replaces proline with serine at codon 150 of the PMS2 protein (p.Pro150Ser). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline 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 PMS2-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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.
Ambry Genetics RCV000569142 SCV000663556 uncertain significance Hereditary cancer-predisposing syndrome 2019-02-05 criteria provided, single submitter clinical testing Insufficient evidence
Color RCV000569142 SCV000686204 uncertain significance Hereditary cancer-predisposing syndrome 2018-12-26 criteria provided, single submitter clinical testing

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