ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.1478del (p.Gln493fs)

dbSNP: rs1553365799
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000539331 SCV000625267 pathogenic Hereditary nonpolyposis colorectal neoplasms 2020-01-16 criteria provided, single submitter clinical testing This sequence change deletes 1 nucleotide from exon 9 of the MSH2 mRNA (c.1478delA), causing a frameshift at codon 493. This creates a premature translational stop signal (p.Gln493Argfs*4) and is expected to result in an absent or disrupted protein product.. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with MSH2-related disease. ClinVar contains an entry for this variant (Variation ID: 455495). Loss-of-function variants in MSH2 are known to be pathogenic (PMID: 15849733, 24362816). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV002395282 SCV002700710 pathogenic Hereditary cancer-predisposing syndrome 2019-12-20 criteria provided, single submitter clinical testing The c.1478delA pathogenic mutation, located in coding exon 9 of the MSH2 gene, results from a deletion of one nucleotide at nucleotide position 1478, causing a translational frameshift with a predicted alternate stop codon (p.Q493Rfs*4). 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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