ClinVar Miner

Submissions for variant NM_020458.4(TTC7A):c.315_318del (p.Asn104_Tyr105insTer)

dbSNP: rs886037747
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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 RCV000170528 SCV001230440 pathogenic Multiple gastrointestinal atresias 2019-12-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr105*) in the TTC7A gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with combined immunodeficiency with multiple intestinal atresias (PMID: 23830146, 25587526). This variant is also known as c.313 TATC; p.Y105fs in the literature. ClinVar contains an entry for this variant (Variation ID: 190390). Loss-of-function variants in TTC7A are known to be pathogenic (PMID: 23830146, 24292712). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV004562389 SCV000223093 pathogenic Gastrointestinal defects and immunodeficiency syndrome 1 2013-09-01 no assertion criteria provided literature only

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