ClinVar Miner

Submissions for variant NM_020458.4(TTC7A):c.517+1G>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003338907 SCV004047287 likely pathogenic Gastrointestinal defects and immunodeficiency syndrome 1 criteria provided, single submitter clinical testing The c.517+1G>A splice donor variant in TTC7A gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.517+1G>A variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. Loss of function variants have been previously reported to be disease causing. For these reasons, this variant has been classified as Likely Pathogenic. In the absence of another reportable variant, the molecular diagnosis is not confirmed.

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