ClinVar Miner

Submissions for variant NM_002439.5(MSH3):c.1124A>T (p.Lys375Met)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003368190 SCV004056910 uncertain significance Hereditary cancer-predisposing syndrome 2023-08-29 criteria provided, single submitter clinical testing The p.K375M variant (also known as c.1124A>T), located in coding exon 7 of the MSH3 gene, results from an A to T substitution at nucleotide position 1124. The lysine at codon 375 is replaced by methionine, an amino acid with 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.
GeneDx RCV003443206 SCV004169750 uncertain significance not provided 2023-05-08 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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