ClinVar Miner

Submissions for variant NC_000002.11:g.(?_47168661)_(47238594_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001385969 SCV001586020 pathogenic Multiple gastrointestinal atresias 2020-03-09 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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 with TTC7A-related conditions. This variant is a gross deletion of the genomic region encompassing exons 1-11 of the TTC7A gene, which includes the initiator codon. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 11 of the TTC7A gene. This is expected to result in an absent or disrupted protein product.

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