ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.131A>G (p.Glu44Gly)

dbSNP: rs876659955
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001055623 SCV001220023 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2022-07-01 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with PMS2-related conditions. This sequence change replaces glutamic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 44 of the PMS2 protein (p.Glu44Gly). This variant is not present in population databases (gnomAD no frequency). ClinVar contains an entry for this variant (Variation ID: 851264). 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 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.
Ambry Genetics RCV002379567 SCV002692112 uncertain significance Hereditary cancer-predisposing syndrome 2020-01-15 criteria provided, single submitter clinical testing The p.E44G variant (also known as c.131A>G), located in coding exon 2 of the PMS2 gene, results from an A to G substitution at nucleotide position 131. The glutamic acid at codon 44 is replaced by glycine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Institute of Human Genetics, University of Goettingen RCV004821296 SCV005441761 uncertain significance Lynch syndrome 4 2025-01-02 criteria provided, single submitter clinical testing

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