ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.3341_3342insC (p.Ile1115fs)

dbSNP: rs587779260
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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) RCV000074841 SCV000108053 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding sequence variation resulting in a stop codon
Invitae RCV001854281 SCV002233965 pathogenic Hereditary nonpolyposis colorectal neoplasms 2022-07-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ile1115Asnfs*4) 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 premature translational stop signal has been observed in individual(s) with Lynch syndrome (PMID: 24072394). ClinVar contains an entry for this variant (Variation ID: 89374). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. For these reasons, this variant has been classified as Pathogenic.

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