ClinVar Miner

Submissions for variant NM_020458.4(TTC7A):c.518-914_588del

dbSNP: rs1673619175
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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 RCV001052861 SCV001217093 likely pathogenic Multiple gastrointestinal atresias 2019-02-26 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely 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. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant is a deletion of the genomic region encompassing the consensus acceptor splice site in intron 3 and part of exon 4 (c.518-914_588del) of the TTC7A gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product.

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