ClinVar Miner

Submissions for variant NM_023073.3(CPLANE1):c.8696G>A (p.Trp2899Ter) (rs1482303814)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Broad Institute Rare Disease Group,Broad Institute RCV000785944 SCV000924524 likely pathogenic Joubert syndrome 17 2018-06-15 criteria provided, single submitter research The homozygous p.Trp2899Ter variant was identified by our study in one individual with Joubert syndrome. This variant was absent from large population studies and computational prediction tools suggest that this variant may impact the protein, though this information is not predictive enough to determine pathogenicity. Loss of function of the C5ORF42 gene is an established disease mechanism in autosomal recessive Joubert syndrome, and this is a loss of function variant. In summary, although additional studies are required to fully establish its pathogenicity, this variant is likely pathogenic.

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