ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.337A>T (p.Lys113Ter)

dbSNP: rs1573437064
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV002291503 SCV002583566 pathogenic Lynch syndrome 1 2021-09-23 criteria provided, single submitter research A heterozygous nonsense variation in exon 2 of the MSH2 gene (Depth: 78x) that results in a stop codon and premature truncation of the protein at codon 113 amino acid substitution of Valine for Leucine at codon 83 was detected. The observed variant c.337A>T(p.Lys113Ter)has not been the 1000 genomes, gnomAD and our internal databases. The in-silico prediction# of the variant is damaging by MutationTaster2 tool. The reference codon is conserved across species.
Constitutional Genetics Lab, Leon Berard Cancer Center RCV001249955 SCV001423969 pathogenic Lynch-like syndrome 2019-07-01 no assertion criteria provided clinical testing

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