ClinVar Miner

Submissions for variant NM_024790.6(CSPP1):c.1132C>T (p.Arg378Ter) (rs374703898)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UW Hindbrain Malformation Research Program,University of Washington RCV000201690 SCV000256404 pathogenic Joubert syndrome 21 2015-02-23 criteria provided, single submitter research
GeneDx RCV000520785 SCV000617791 likely pathogenic not provided 2017-04-05 criteria provided, single submitter clinical testing A variant that is likely pathogenic has been identified in the CSPP1 gene. The R378X nonsense variant has been previously reported in two siblings Joubert syndrome who had a second variant in CSPP1; however, information regarding the phase of the variants was not available (Tuz et al., 2014; Bachmann-Gagescu et al., 2015). The R378X variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. It is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.

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