ClinVar Miner

Submissions for variant NM_020458.4(TTC7A):c.2146C>T (p.Gln716Ter)

dbSNP: rs762685822
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001930325 SCV002183334 pathogenic Multiple gastrointestinal atresias 2021-05-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln716*) in the TTC7A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TTC7A are known to be pathogenic (PMID: 23830146, 24292712). This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with TTC7A-related conditions. For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005023429 SCV005661084 likely pathogenic Gastrointestinal defects and immunodeficiency syndrome 1 2024-06-10 criteria provided, single submitter clinical testing

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