ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.2428A>G (p.Arg810Gly)

dbSNP: rs1781818536
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001210663 SCV001382160 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2021-12-08 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 940972). This variant has not been reported in the literature in individuals affected with PMS2-related conditions. The frequency data for this variant in the population databases (gnomAD) is considered unreliable due to the presence of homologous sequence, such as pseudogenes or paralogs, in the genome. This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 810 of the PMS2 protein (p.Arg810Gly). 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.
Ambry Genetics RCV002447075 SCV002732904 uncertain significance Hereditary cancer-predisposing syndrome 2020-03-05 criteria provided, single submitter clinical testing The p.R810G variant (also known as c.2428A>G), located in coding exon 14 of the PMS2 gene, results from an A to G substitution at nucleotide position 2428. The arginine at codon 810 is replaced by glycine, an amino acid with dissimilar 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.
CeGaT Center for Human Genetics Tuebingen RCV003886489 SCV004703202 uncertain significance not provided 2023-12-01 criteria provided, single submitter clinical testing PMS2: PM2, PP2

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