ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.1037A>G (p.Gln346Arg)

dbSNP: rs752268571
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000529345 SCV000625500 likely benign Hereditary nonpolyposis colorectal neoplasms 2024-12-18 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000581051 SCV000686091 uncertain significance Hereditary cancer-predisposing syndrome 2022-08-15 criteria provided, single submitter clinical testing This missense variant replaces glutamine with arginine at codon 346 of the PMS2 protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has been identified in 15/251076 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Ambry Genetics RCV000581051 SCV001178124 uncertain significance Hereditary cancer-predisposing syndrome 2024-02-01 criteria provided, single submitter clinical testing The p.Q346R variant (also known as c.1037A>G), located in coding exon 10 of the PMS2 gene, results from an A to G substitution at nucleotide position 1037. The glutamine at codon 346 is replaced by arginine, an amino acid with highly 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. Based on the available evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV001755789 SCV002005016 uncertain significance not provided 2024-12-23 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 11574484)

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