ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.223G>A (p.Val75Ile)

dbSNP: rs1554304971
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000535733 SCV000625603 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2021-03-22 criteria provided, single submitter clinical testing In summary, this variant has uncertain impact on PMS2 function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance. 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: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with a PMS2-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces valine with isoleucine at codon 75 of the PMS2 protein (p.Val75Ile). The valine residue is highly conserved and there is a small physicochemical difference between valine and isoleucine.

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