ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.801T>G (p.Phe267Leu)

dbSNP: rs1554301382
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000630085 SCV000751041 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2017-10-19 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change replaces phenylalanine with leucine at codon 267 of the PMS2 protein (p.Phe267Leu). The phenylalanine residue is highly conserved and there is a small physicochemical difference between phenylalanine and leucine. This variant has not been reported in the literature in individuals with PMS2-related disease. In summary, the available evidence is currently insufficient to determine the role of this variant 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: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0").

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