ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.155C>G (p.Thr52Ser)

dbSNP: rs1583418387
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001012160 SCV001172581 uncertain significance Hereditary cancer-predisposing syndrome 2019-09-03 criteria provided, single submitter clinical testing The p.T52S variant (also known as c.155C>G), located in coding exon 2 of the PMS2 gene, results from a C to G substitution at nucleotide position 155. The threonine at codon 52 is replaced by serine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV001862786 SCV002207996 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2021-07-18 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 819531). This variant has not been reported in the literature in individuals affected with PMS2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces threonine with serine at codon 52 of the PMS2 protein (p.Thr52Ser). The threonine residue is highly conserved and there is a small physicochemical difference between threonine and serine.
Baylor Genetics RCV003461323 SCV004205468 uncertain significance Lynch syndrome 4 2023-08-29 criteria provided, single submitter clinical testing

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