ClinVar Miner

Submissions for variant NM_024753.5(TTC21B):c.1088-1G>C

gnomAD frequency: 0.00001  dbSNP: rs753627675
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000521037 SCV000618301 likely pathogenic not provided 2017-02-27 criteria provided, single submitter clinical testing The c.1088-1G>C variant in the TTC21B gene has been reported previously in two siblings with ciliopathy, however no second TTC21B variant was identified and the siblings were compound heterozygous for two variants in the CRB2 gene (Jaron et al., 2016). This splice site variant destroys the canonical splice acceptor site in intron 9. It is predicted to cause abnormal gene splicing, either leading to an abnormal message that is subject to nonsense-mediated mRNA decay, or to an abnormal protein product if the message is used for protein translation. The c.1088-1G>C variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret c.1088-1G>C as a likely pathogenic variant.
Sharon lab, Hadassah-Hebrew University Medical Center RCV001003235 SCV001161314 pathogenic Renal dysplasia and retinal aplasia 2019-06-23 no assertion criteria provided research

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