ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.3895_3935dup (p.Ile1313fs)

dbSNP: rs2530866389
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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. RCV003450283 SCV004185862 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 RCV003759853 SCV004461037 pathogenic Hereditary nonpolyposis colorectal neoplasms 2023-05-06 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the MSH6 protein in which other variant(s) (p.Arg1331*) have been determined to be pathogenic (PMID: 16034045, 18301448, 20587412, 21056691, 21642682, 27601186). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This variant has not been reported in the literature in individuals affected with MSH6-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ile1313Alafs*28) in the MSH6 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 48 amino acid(s) of the MSH6 protein.

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