ClinVar Miner

Submissions for variant NM_001128425.1(MUTYH):c.338G>A (p.Trp113Ter) (rs888691362)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Health, Inc RCV000776071 SCV000910773 pathogenic Hereditary cancer-predisposing syndrome 2020-04-14 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001206801 SCV000919799 likely pathogenic MYH-associated polyposis 2018-07-31 criteria provided, single submitter clinical testing Variant summary: MUTYH c.338G>A (p.Trp113X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory (eg. c.1147delC, p.Ala385fsX23; c.1227_1228dupGG, p.Glu410fsX43; c.1437_1439delGGA, p.Glu480del). The variant allele was found at a frequency of 1.6e-05 in 121388 control chromosomes (ExAC). To our knowledge, no occurrence of c.338G>A in individuals affected with MUTYH-associated Polyposis and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic.
Invitae RCV001206801 SCV001378130 pathogenic MYH-associated polyposis 2019-06-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp113*) 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 conditions. ClinVar contains an entry for this variant (Variation ID: 630488). Loss-of-function variants in MUTYH are known to be pathogenic (PMID: 18534194, 20663686). For these reasons, this variant has been classified as Pathogenic.
Department of Pathology and Laboratory Medicine,Sinai Health System RCV001354223 SCV001548783 uncertain significance not provided no assertion criteria provided clinical testing

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