ClinVar Miner

Submissions for variant NM_002439.5(MSH3):c.3092G>C (p.Gly1031Ala)

dbSNP: rs1183003748
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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 RCV001368103 SCV001564481 uncertain significance not provided 2023-05-16 criteria provided, single submitter clinical testing 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant  is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 1058914). This variant has not been reported in the literature in individuals affected with MSH3-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change replaces glycine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 1031 of the MSH3 protein (p.Gly1031Ala).
Sema4, Sema4 RCV002256750 SCV002536496 uncertain significance Hereditary cancer-predisposing syndrome 2022-03-18 criteria provided, single submitter curation
Ambry Genetics RCV002256750 SCV002606327 uncertain significance Hereditary cancer-predisposing syndrome 2022-10-04 criteria provided, single submitter clinical testing The p.G1031A variant (also known as c.3092G>C), located in coding exon 22 of the MSH3 gene, results from a G to C substitution at nucleotide position 3092. The glycine at codon 1031 is replaced by alanine, an amino acid with similar properties. This amino acid position is conserved. 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.
Baylor Genetics RCV004570901 SCV005053603 uncertain significance Endometrial carcinoma 2024-03-04 criteria provided, single submitter clinical testing

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