ClinVar Miner

Submissions for variant NM_002439.5(MSH3):c.2642A>C (p.Asn881Thr)

dbSNP: rs1744631908
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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 RCV001216163 SCV001387943 uncertain significance not provided 2025-01-22 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with threonine, which is neutral and polar, at codon 881 of the MSH3 protein (p.Asn881Thr). 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: 945506). 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. 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 RCV004033987 SCV005018772 uncertain significance Hereditary cancer-predisposing syndrome 2024-03-02 criteria provided, single submitter clinical testing The p.N881T variant (also known as c.2642A>C), located in coding exon 19 of the MSH3 gene, results from an A to C substitution at nucleotide position 2642. The asparagine at codon 881 is replaced by threonine, 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. Based on the available evidence, the clinical significance of this alteration remains unclear.

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