ClinVar Miner

Submissions for variant NM_002439.5(MSH3):c.1379A>C (p.Asn460Thr)

gnomAD frequency: 0.00001  dbSNP: rs373930327
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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 RCV001058284 SCV001222842 uncertain significance not provided 2024-07-30 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 460 of the MSH3 protein (p.Asn460Thr). This variant is present in population databases (rs373930327, gnomAD 0.002%). 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: 853475). 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 RCV002379574 SCV002699583 uncertain significance Hereditary cancer-predisposing syndrome 2023-08-02 criteria provided, single submitter clinical testing The p.N460T variant (also known as c.1379A>C), located in coding exon 9 of the MSH3 gene, results from an A to C substitution at nucleotide position 1379. The asparagine at codon 460 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. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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