ClinVar Miner

Submissions for variant NM_001329943.3(KIAA0586):c.704_705del (p.Gln235fs)

gnomAD frequency: 0.00002  dbSNP: rs770566897
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UW Hindbrain Malformation Research Program, University of Washington RCV000186593 SCV000256433 pathogenic Joubert syndrome 23 2015-09-01 criteria provided, single submitter research
CeGaT Center for Human Genetics Tuebingen RCV001091046 SCV001246881 pathogenic not provided 2017-08-01 criteria provided, single submitter clinical testing
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes RCV001778778 SCV002016273 pathogenic Neurodevelopmental disorder 2021-06-28 criteria provided, single submitter clinical testing
Invitae RCV001852435 SCV002240543 pathogenic Joubert syndrome 23; Short-rib thoracic dysplasia 14 with polydactyly 2023-09-01 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 204596). This premature translational stop signal has been observed in individual(s) with Joubert syndrome (PMID: 26096313). This variant is present in population databases (rs770566897, gnomAD 0.008%). This sequence change creates a premature translational stop signal (p.Gln288Argfs*7) 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).
GeneDx RCV001091046 SCV003798585 pathogenic not provided 2022-08-05 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 34611884, 26096313, 32581362, 26026149)
OMIM RCV000186593 SCV000240169 pathogenic Joubert syndrome 23 2015-06-11 no assertion criteria provided literature only
NIHR Bioresource Rare Diseases, University of Cambridge RCV001003980 SCV001162006 likely pathogenic Congenital cerebellar hypoplasia; Rod-cone dystrophy; Intellectual disability no assertion criteria provided research

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