ClinVar Miner

Submissions for variant NM_020458.4(TTC7A):c.280A>T (p.Lys94Ter)

dbSNP: rs766411601
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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 RCV000794117 SCV000933507 pathogenic Multiple gastrointestinal atresias 2018-11-05 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.Lys94*) in the TTC7A gene. It is expected to result in an absent or disrupted protein product.

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