ClinVar Miner

Submissions for variant NM_020458.4(TTC7A):c.1576C>T (p.Gln526Ter)

dbSNP: rs786205698
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000170531 SCV001199687 pathogenic Multiple gastrointestinal atresias 2022-09-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln526*) 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 present in population databases (rs786205698, gnomAD 0.003%). This premature translational stop signal has been observed in individual(s) with very early onset inflammatory bowel disease (PMID: 24417819). ClinVar contains an entry for this variant (Variation ID: 190393). For these reasons, this variant has been classified as Pathogenic.
Aleixo Muise Laboratory, Hospital For Sick Children RCV004562392 SCV005088109 pathogenic Gastrointestinal defects and immunodeficiency syndrome 1 2024-07-05 criteria provided, single submitter research PVS1;PM2;PM3;PP3;PP4
OMIM RCV004562392 SCV000223096 pathogenic Gastrointestinal defects and immunodeficiency syndrome 1 2014-04-01 no assertion criteria provided literature only

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