ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.2872_2873dup (p.Gln958fs)

dbSNP: rs2530698797
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV003450389 SCV004187305 pathogenic Lynch syndrome 5 2023-08-21 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 RCV003594677 SCV004338223 pathogenic Hereditary nonpolyposis colorectal neoplasms 2024-04-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln958Hisfs*11) 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. For these reasons, this variant has been classified as Pathogenic.

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