ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.1232T>A (p.Ile411Lys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002362247 SCV002665653 uncertain significance Hereditary cancer-predisposing syndrome 2021-05-19 criteria provided, single submitter clinical testing The p.I411K variant (also known as c.1232T>A), located in coding exon 7 of the MSH2 gene, results from a T to A substitution at nucleotide position 1232. The isoleucine at codon 411 is replaced by lysine, an amino acid with dissimilar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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