ClinVar Miner

Submissions for variant NM_001174150.2(ARL13B):c.932dup (p.Asn311fs)

dbSNP: rs750642821
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002002369 SCV002233848 pathogenic Joubert syndrome 8 2022-10-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asn311Lysfs*2) in the ARL13B gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ARL13B are known to be pathogenic (PMID: 18674751). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with ARL13B-related conditions. ClinVar contains an entry for this variant (Variation ID: 1453361). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV002002369 SCV005664310 likely pathogenic Joubert syndrome 8 2024-03-08 criteria provided, single submitter clinical testing

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