ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.2212G>T (p.Val738Phe) (rs758225108)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000662652 SCV000785339 uncertain significance Hereditary nonpolyposis colorectal cancer type 4 2017-07-07 criteria provided, single submitter clinical testing
Invitae RCV001244703 SCV001417945 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2019-06-25 criteria provided, single submitter clinical testing This sequence change replaces valine with phenylalanine at codon 738 of the PMS2 protein (p.Val738Phe). The valine residue is moderately conserved and there is a small physicochemical difference between valine and phenylalanine. The frequency data for this variant in the population databases (ExAC) is considered unreliable due to the presence of homologous sequence, such as pseudogenes or paralogs, in the genome. This variant has not been reported in the literature in individuals with PMS2-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.

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