ClinVar Miner

Submissions for variant NM_014408.5(TRAPPC3):c.184C>T (p.Arg62Trp)

gnomAD frequency: 0.00006  dbSNP: rs751375244
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre RCV000256478 SCV000322764 likely pathogenic Bardet-Biedl syndrome no assertion criteria provided research Autozygosity mapping, the only segregating variant in the exome. TRAPPC3 (part of transport protein particle (TRAPP) II complex, and a novel candidate gene for BBS in this study) has been shown to be required for ciliogenesis in RPE cells (Schou et al. 2014). TRAP II complex has also been shown to bind Rabin8 and target it to the centrosome as a pre-requisite step for cilioagenesis (Westlake et al. 2011). Rabin8 is known to associate with BBSome and its knockdown in zebrafish recapitulates the BBS phenotypic readouts in this model system (Nachury et al. 2007; Westlake et al. 2011).

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