ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.964G>T (p.Val322Phe)

dbSNP: rs587782208
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001196703 SCV001367334 uncertain significance Mismatch repair cancer syndrome 1 2019-10-17 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PM2,PP3,BP1.
Invitae RCV001876276 SCV002252461 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2020-11-10 criteria provided, single submitter clinical testing 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt PMS2 protein function. This variant has not been reported in the literature in individuals with PMS2-related conditions. ClinVar contains an entry for this variant (Variation ID: 930789). This variant is not present in population databases (ExAC no frequency). This sequence change replaces valine with phenylalanine at codon 322 of the PMS2 protein (p.Val322Phe). The valine residue is moderately conserved and there is a small physicochemical difference between valine and phenylalanine.

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