ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.3867_3870dup (p.Lys1291delinsHisTer)

dbSNP: rs2530863027
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003144072 SCV003833627 likely pathogenic not provided 2022-06-25 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV003455768 SCV004187114 pathogenic Lynch syndrome 5 2023-08-28 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 RCV003594319 SCV004262918 pathogenic Hereditary nonpolyposis colorectal neoplasms 2024-09-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys1291Hisfs*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). 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. ClinVar contains an entry for this variant (Variation ID: 2441531). RNA analysis performed to evaluate the impact of this premature translational stop signal on mRNA splicing indicates it does not significantly alter splicing (internal data). For these reasons, this variant has been classified as Pathogenic.

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