ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.2338_2339del (p.Ala780fs)

dbSNP: rs2530665908
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV003450312 SCV004187104 pathogenic Lynch syndrome 5 2023-08-17 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 RCV005100130 SCV005756869 pathogenic Hereditary nonpolyposis colorectal neoplasms 2024-12-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ala780Profs*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 variant has not been reported in the literature in individuals affected with MSH6-related conditions. ClinVar contains an entry for this variant (Variation ID: 2673675). For these reasons, this variant has been classified as Pathogenic.

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