ClinVar Miner

Submissions for variant NM_025077.4(TOE1):c.-33C>T (rs1064795596)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000478455 SCV000571561 likely pathogenic not provided 2016-08-31 criteria provided, single submitter clinical testing This variant is denoted MUTYH c.35G>A at the cDNA level and p.Trp12Ter (W12X) at the protein level. The substitution creates a nonsense variant, which changes a Tryptophan to a premature stop codon (TGG>TAG), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. Although this variant has not, to our knowledge, been reported in the literature, it is considered likely pathogenic.
Invitae RCV001209233 SCV001380657 pathogenic MYH-associated polyposis 2019-11-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp12*) 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: 422159). Loss-of-function variants in MUTYH are known to be pathogenic (PMID: 18534194, 20663686). For these reasons, this variant has been classified as Pathogenic.

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