ClinVar Miner

Submissions for variant NM_020458.4(TTC7A):c.2482C>T (p.Gln828Ter)

dbSNP: rs1684987064
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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 RCV001344526 SCV001538586 uncertain significance Multiple gastrointestinal atresias 2020-09-24 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the TTC7A gene (p.Gln828*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 31 amino acids of the TTC7A protein. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with gastrointestinal defects and immunodeficiency syndrome (PMID: 24931897). This variant disrupts a region of the protein in which other variant(s) (p.Ala832Thr, p.Ala839Thr) have been observed in individuals with TTC7A-related conditions (PMID: 24417819, 29174094). This suggests that this may be a clinically significant region of the TTC7A protein. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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