ClinVar Miner

Submissions for variant NC_000002.11:g.(?_47132602)_(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 RCV003109705 SCV003791698 pathogenic Multiple gastrointestinal atresias 2022-01-15 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant is a gross deletion of the genomic region encompassing exon(s) 1-5 of the TTC7A gene, which includes the initiator codon. This deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. 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 has not been reported in the literature in individuals affected with TTC7A-related conditions.

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