ClinVar Miner

Submissions for variant NM_020458.4(TTC7A):c.1039dup (p.Leu347fs)

dbSNP: rs1572849873
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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 RCV000816659 SCV000957176 pathogenic Multiple gastrointestinal atresias 2018-12-15 criteria provided, single submitter clinical testing Loss-of-function variants in TTC7A are known to be pathogenic (PMID: 23830146, 24292712). For these reasons, this variant has been classified as Pathogenic. This variant has been observed in an individual with clinical features of gastrointestinal defects and immunodeficiency syndrome (Invitae). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Leu347Profs*38) in the TTC7A gene. It is expected to result in an absent or disrupted protein product.

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