ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.845_848dup (p.Asp284fs)

dbSNP: rs2530574144
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV003450345 SCV004187201 pathogenic Lynch syndrome 5 2023-08-11 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.
Baylor Genetics RCV003459869 SCV004198150 likely pathogenic Endometrial carcinoma 2022-05-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003594674 SCV004263291 pathogenic Hereditary nonpolyposis colorectal neoplasms 2024-02-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asp284Glyfs*3) 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. For these reasons, this variant has been classified as Pathogenic.

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