ClinVar Miner

Submissions for variant NM_001329943.3(KIAA0586):c.2504_2508del (p.Leu835fs)

gnomAD frequency: 0.00001  dbSNP: rs1410766981
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000652573 SCV000774443 pathogenic Joubert syndrome 23; Short-rib thoracic dysplasia 14 with polydactyly 2017-10-24 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in KIAA0586 are known to be pathogenic (PMID: 26096313, 26166481). This variant has been reported in the literature in an individual with Joubert syndrome (PMID: 26096313). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Leu888Glnfs*24) in the KIAA0586 gene. It is expected to result in an absent or disrupted protein product.
Ambry Genetics RCV003163003 SCV003880532 pathogenic Inborn genetic diseases 2023-03-02 criteria provided, single submitter clinical testing The c.2276_2280delTGTCT (p.L759Qfs*24) alteration, located in coding exon 16 of the KIAA0586 gene, consists of a deletion of 5 nucleotides at nucleotide positions 2276 to 2280, causing a translational frameshift with a predicted alternate stop codon after 24 amino acids. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). Based on the available evidence, this alteration is classified as pathogenic.

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