ClinVar Miner

Submissions for variant NC_000002.11:g.(?_47256343)_(47256543_?)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 RCV004582428 SCV005067789 pathogenic Multiple gastrointestinal atresias 2023-03-14 criteria provided, single submitter clinical testing A similar copy number variant has been observed in individual(s) with TTC71-related conditions (PMID: 31342292). For these reasons, this variant has been classified as Pathogenic. This variant is a gross deletion of the genomic region encompassing exon(s) 15 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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