ClinVar Miner

Submissions for variant NM_002439.5(MSH3):c.605A>C (p.Gln202Pro)

dbSNP: rs1580550136
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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 RCV001024845 SCV001186932 uncertain significance Hereditary cancer-predisposing syndrome 2019-03-20 criteria provided, single submitter clinical testing The p.Q202P variant (also known as c.605A>C), located in coding exon 4 of the MSH3 gene, results from an A to C substitution at nucleotide position 605. The glutamine at codon 202 is replaced by proline, an amino acid with similar properties. This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV001308860 SCV001498334 uncertain significance not provided 2025-02-02 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 202 of the MSH3 protein (p.Gln202Pro). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with MSH3-related conditions. ClinVar contains an entry for this variant (Variation ID: 826161). An algorithm developed to predict the effect of missense changes on protein structure and function outputs the following: PolyPhen-2: "Benign". The proline amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect 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.
Department of Human Genetics, Hannover Medical School RCV004693444 SCV005196401 uncertain significance Familial adenomatous polyposis 4 2024-08-15 criteria provided, single submitter clinical testing

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