ClinVar Miner

Submissions for variant NM_001048174.2(MUTYH):c.704G>A (p.Trp235Ter)

dbSNP: rs1570406302
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000794479 SCV000933891 pathogenic Familial adenomatous polyposis 2 2018-07-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp263*) in the MUTYH gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with MUTYH-related disease. Loss-of-function variants in MUTYH are known to be pathogenic (PMID: 18534194, 20663686). For these reasons, this variant has been classified as Pathogenic.
Laboratory for Genotyping Development, RIKEN RCV003166117 SCV002758256 pathogenic Gastric cancer 2021-07-01 no assertion criteria provided research

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