ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.3609del (p.His1203fs)

dbSNP: rs2104524646
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001870427 SCV002127442 pathogenic Hereditary nonpolyposis colorectal neoplasms 2021-08-09 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.His1203Glnfs*13) 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 has not been reported in the literature in individuals affected with MSH6-related conditions. For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site.
Myriad Genetics, Inc. RCV003451999 SCV004187356 pathogenic Lynch syndrome 5 2023-08-24 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.

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