ClinVar Miner

Submissions for variant NM_020458.4(TTC7A):c.1204-2A>G

gnomAD frequency: 0.00003  dbSNP: rs876657392
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000170530 SCV002237702 pathogenic Multiple gastrointestinal atresias 2021-02-19 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 9 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). This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with gastrointestinal defects and immunodeficiency syndrome (PMID: 24417819). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 190392). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. For these reasons, this variant has been classified as Pathogenic.
OMIM RCV004562391 SCV000223095 pathogenic Gastrointestinal defects and immunodeficiency syndrome 1 2014-04-01 no assertion criteria provided literature only

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