ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.3772C>T (p.Gln1258Ter)

dbSNP: rs63750554
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000074927 SCV000108140 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding sequence variation resulting in a stop codon
Invitae RCV003593872 SCV004293922 pathogenic Hereditary nonpolyposis colorectal neoplasms 2023-02-06 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln1258*) 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 premature translational stop signal has been observed in individual(s) with MSH6-related conditions (PMID: 10521294, 26517685). ClinVar contains an entry for this variant (Variation ID: 89459). For these reasons, this variant has been classified as Pathogenic.

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