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 The c.871delC pathogenic mutation, located in coding exon 5 of the MSH2 gene, results from a deletion of one nucleotide at nucleotide position 871, causing a translational frameshift with a predicted alternate stop codon (p.L291*). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Mayo Clinic Laboratories, Mayo Clinic RCV000484912 SCV000691900 likely pathogenic not provided no assertion criteria provided clinical testing

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