ClinVar Miner

Submissions for variant NM_001174150.2(ARL13B):c.393_396del (p.Gln132fs) (rs1560002959)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000701326 SCV000830123 pathogenic Joubert syndrome 8 2018-03-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln132Ilefs*6) in the ARL13B gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with ARL13B-related disease. Loss-of-function variants in ARL13B are known to be pathogenic (PMID: 18674751). For these reasons, this variant has been classified as Pathogenic.

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