ClinVar Miner

Submissions for variant NM_001048174.2(MUTYH):c.1425del (p.Thr476fs)

dbSNP: rs2149103038
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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 RCV001384775 SCV001584421 pathogenic Familial adenomatous polyposis 2 2020-01-29 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. This variant results in an extension of the MUTYH protein. Other variant(s) that result in a similarly extended protein product (p.Ser518Valfs*53) have been determined to be pathogenic (PMID: 11092888, 26377631, 11864576). This suggests that these extensions are likely to be causative of disease. This variant has not been reported in the literature in individuals with MUTYH-related conditions. This sequence change results in a frameshift in the MUTYH gene (p.Thr504Profs*67). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 46 amino acids of the MUTYH protein and extend the protein by an additional 25 amino acids.

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