ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.285_300del (p.Arg96fs)

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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 RCV002435354 SCV002752723 pathogenic Hereditary cancer-predisposing syndrome 2022-03-29 criteria provided, single submitter clinical testing The c.285_300del16 pathogenic mutation, located in coding exon 2 of the MSH2 gene, results from a deletion of 16 nucleotides at nucleotide positions 285 to 300, causing a translational frameshift with a predicted alternate stop codon (p.R96Kfs*73). 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.

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