ClinVar Miner

Submissions for variant NM_144596.4(TTC8):c.489+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 RCV004785814 SCV005400868 likely pathogenic Bardet-Biedl syndrome 8 criteria provided, single submitter clinical testing The splice donor c.489+1G>A variant in the TTC8 gene has been reported previously in an individual affected with Bardet-Biedl Syndrome (Suspitsin et al., 2016). This variant is absent in the gnomAD Exomes. However study on multiple affected individuals and functional studies on the pathogenicity of the variant is unavailable. This variant change affects the donor splice site in intron 5 of the TTC8 gene. Loss of function variants have been previously reported to be disease causing (M'hamdi et al., 2014). For these reasons, this variant has been classified as Likely Pathogenic.

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