ClinVar Miner

Submissions for variant NM_002439.5(MSH3):c.1833A>G (p.Ile611Met)

gnomAD frequency: 0.00001  dbSNP: rs1744035428
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001373478 SCV001570195 uncertain significance not provided 2023-07-09 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 disruptive. ClinVar contains an entry for this variant (Variation ID: 1063624). This variant has not been reported in the literature in individuals affected with MSH3-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces isoleucine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 611 of the MSH3 protein (p.Ile611Met).
Ambry Genetics RCV002413901 SCV002716313 uncertain significance Hereditary cancer-predisposing syndrome 2024-04-24 criteria provided, single submitter clinical testing The p.I611M variant (also known as c.1833A>G), located in coding exon 13 of the MSH3 gene, results from an A to G substitution at nucleotide position 1833. The isoleucine at codon 611 is replaced by methionine, an amino acid with highly similar properties. This amino acid position is conserved. 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.

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