ClinVar Miner

Submissions for variant NM_001329943.3(KIAA0586):c.411-1371G>A

dbSNP: rs2038350104
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001987098 SCV002213090 pathogenic Joubert syndrome 23; Short-rib thoracic dysplasia 14 with polydactyly 2023-05-08 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with KIAA0586-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp187*) in the KIAA0586 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in KIAA0586 are known to be pathogenic (PMID: 26096313, 26166481, 26386044). ClinVar contains an entry for this variant (Variation ID: 1435732). For these reasons, this variant has been classified as Pathogenic.

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