ClinVar Miner

Submissions for variant NM_020458.4(TTC7A):c.764+1G>T

dbSNP: rs756396993
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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 RCV002033669 SCV002277406 likely pathogenic Multiple gastrointestinal atresias 2021-10-13 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This variant has not been reported in the literature in individuals affected with TTC7A-related conditions. This variant is present in population databases (rs756396993, ExAC 0.01%). This sequence change affects a donor splice site in intron 5 of the TTC7A gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in TTC7A are known to be pathogenic (PMID: 23830146, 24292712).

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