ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.1312dup (p.Met438fs)

dbSNP: rs863225399
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV003454525 SCV004188246 pathogenic Lynch syndrome 5 2023-08-11 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.
Labcorp Genetics (formerly Invitae), Labcorp RCV005090020 SCV005761250 pathogenic Hereditary nonpolyposis colorectal neoplasms 2024-08-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Met438Asnfs*9) in the MSH6 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MSH6 are known to be pathogenic (PMID: 18269114, 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 MSH6-related conditions. ClinVar contains an entry for this variant (Variation ID: 218052). For these reasons, this variant has been classified as Pathogenic.
Mayo Clinic Laboratories, Mayo Clinic RCV000202043 SCV000257210 likely pathogenic not provided no assertion criteria provided research

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