ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.871del (p.Glu290_Leu291insTer) (rs1064794809)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000484912 SCV000569994 pathogenic not provided 2018-04-12 criteria provided, single submitter clinical testing This deletion of one nucleotide is denoted MSH2 c.871delC at the cDNA level and p.Leu291Ter (L291X) at the protein level. The normal sequence, with the base that is deleted in brackets, is TGAA[delC]TGAC. The deletion creates a nonsense variant, which changes a Leucine to a premature stop codon. This variant is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. MSH2 c.871delC has been observed in an individual with colorectal cancer (Le 2017). This variant is considered pathogenic.
Ambry Genetics RCV000491867 SCV000580447 pathogenic Hereditary cancer-predisposing syndrome 2017-01-12 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense);Rarity in general population databases (dbsnp, esp, 1000 genomes)
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000484912 SCV000691900 likely pathogenic not provided no assertion criteria provided clinical testing

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