ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.2377C>T (p.Gln793Ter)

dbSNP: rs730881769
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001284507 SCV001470340 likely pathogenic not provided 2020-03-23 criteria provided, single submitter clinical testing The variant creates a premature nonsense codon, and is therefore predicted to result in the loss of a functional protein. Not found in the total gnomAD dataset, and the data is high quality
Labcorp Genetics (formerly Invitae), Labcorp RCV001384160 SCV001583545 pathogenic Hereditary nonpolyposis colorectal neoplasms 2022-10-06 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 993193). This variant has not been reported in the literature in individuals affected with MSH2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln793*) 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).
Ambry Genetics RCV002451640 SCV002735916 pathogenic Hereditary cancer-predisposing syndrome 2025-02-06 criteria provided, single submitter clinical testing The p.Q793* pathogenic mutation (also known as c.2377C>T), located in coding exon 14 of the MSH2 gene, results from a C to T substitution at nucleotide position 2377. This changes the amino acid from a glutamine to a stop codon within coding exon 14. This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). 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.
Myriad Genetics, Inc. RCV003449836 SCV004188091 pathogenic Lynch syndrome 1 2023-08-08 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation.

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