ClinVar Miner

Submissions for variant NM_020458.4(TTC7A):c.1250G>A (p.Trp417Ter)

dbSNP: rs1558568116
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000700986 SCV000829766 pathogenic Multiple gastrointestinal atresias 2018-06-06 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in TTC7A are known to be pathogenic (PMID: 23830146, 24292712). This variant has not been reported in the literature in individuals with TTC7A-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Trp417*) in the TTC7A gene. It is expected to result in an absent or disrupted protein product.
GeneDx RCV000760787 SCV000890682 likely pathogenic not provided 2018-10-02 criteria provided, single submitter clinical testing The W417X variant in the TTC7A gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The W417X variant is not observed in large population cohorts (Lek et al., 2016). We interpret W417X as a likely pathogenic variant.

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