ClinVar Miner

Submissions for variant NM_001048174.2(MUTYH):c.924_925del (p.Gly309fs)

dbSNP: rs2149129901
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001907649 SCV002128905 pathogenic Familial adenomatous polyposis 2 2022-06-09 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the MUTYH protein in which other variant(s) (p.Gly396Asp) have been determined to be pathogenic (PMID: 11818965, 15987719, 16557584, 18534194, 20848659, 23035301). 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 MUTYH-related conditions. This sequence change creates a premature translational stop signal (p.Gly337Thrfs*194) in the MUTYH gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 213 amino acid(s) of the MUTYH protein.

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