ClinVar Miner

Submissions for variant NC_000002.11:g.(?_47202092)_(47206066_?)del

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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 RCV003109706 SCV003791699 pathogenic Multiple gastrointestinal atresias 2021-11-06 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with TTC7A-related conditions. This variant is a gross deletion of the genomic region encompassing exon(s) 4-5 of the TTC7A gene. This deletion is out-of-frame, and is expected to create a premature termination codon and result in an absent or disrupted protein product. Loss-of-function variants in TTC7A are known to be pathogenic (PMID: 23830146, 24292712).

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