ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.924_925del (p.Arg308fs)

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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 RCV002371356 SCV002687953 pathogenic Hereditary cancer-predisposing syndrome 2020-07-02 criteria provided, single submitter clinical testing The c.924_925delAG pathogenic mutation, located in coding exon 5 of the MSH2 gene, results from a deletion of two nucleotides at nucleotide positions 924 to 925, causing a translational frameshift with a predicted alternate stop codon (p.R308Sfs*3). 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003100127 SCV003339658 pathogenic Hereditary nonpolyposis colorectal neoplasms 2022-06-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg308Serfs*3) in the MSH2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MSH2 are known to be pathogenic (PMID: 15849733, 24362816). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with MSH2-related conditions. For these reasons, this variant has been classified as Pathogenic.

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