ClinVar Miner

Submissions for variant NM_023073.3(CPLANE1):c.4006C>T (p.Arg1336Trp) (rs367543061)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UW Hindbrain Malformation Research Program,University of Washington RCV000024218 SCV000256314 pathogenic Joubert syndrome 17 2015-02-23 criteria provided, single submitter research
GeneDx RCV000522403 SCV000618376 likely pathogenic not provided 2017-04-18 criteria provided, single submitter clinical testing The R1336W variant in the C5orf42 gene has been previously reported in multiple individuals with Joubert syndrome who were homozygous for the variant or who harbored a second variant on the opposite allele (Srour et al., 2012; Srour et al., 2015; Bachmann-Gagescu et al., 2015). The R1336W 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). The R1336W variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved in mammals, and in silico analysis predicts this variant is probably damaging to the protein structure/function. Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.
OMIM RCV000024218 SCV000045509 pathogenic Joubert syndrome 17 2012-04-06 no assertion criteria provided literature only
GeneReviews RCV000024218 SCV000058550 pathologic Joubert syndrome 17 2012-03-29 no assertion criteria provided curation Converted during submission to Pathogenic.

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