ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.17G>C (p.Ser6Thr)

dbSNP: rs587781112
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000127469 SCV000171042 benign not provided 2013-10-28 criteria provided, single submitter clinical testing The variant is found in HEREDICANCER,BR-OV-HEREDIC panel(s).
Labcorp Genetics (formerly Invitae), Labcorp RCV003593914 SCV004249102 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2023-11-17 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with threonine, which is neutral and polar, at codon 6 of the PMS2 protein (p.Ser6Thr). This variant is present in population databases (rs587781112, gnomAD 0.003%). This missense change has been observed in individual(s) with PMS2-related conditions (PMID: 20698049). ClinVar contains an entry for this variant (Variation ID: 138704). 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 with a negative predictive value of 95%. Experimental studies have shown that this missense change does not substantially affect PMS2 function (PMID: 35451539). 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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