ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.3678_3706dup (p.Ala1236delinsGluTer)

dbSNP: rs1553332996
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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) RCV000074912 SCV000108124 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding sequence variation resulting in a stop codon
Invitae RCV002513798 SCV003209029 pathogenic Hereditary nonpolyposis colorectal neoplasms 2022-06-13 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: 89444). This premature translational stop signal has been observed in individual(s) with clinical features of Lynch syndrome (PMID: 17117178). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ala1236Glufs*2) 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).

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