ClinVar Miner

Submissions for variant NM_001329943.3(KIAA0586):c.3144G>A (p.Pro1048=)

gnomAD frequency: 0.00002  dbSNP: rs540255320
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UW Hindbrain Malformation Research Program, University of Washington RCV000201686 SCV000256430 pathogenic Joubert syndrome 23 2015-09-01 criteria provided, single submitter research
Invitae RCV001060061 SCV001224722 pathogenic Joubert syndrome 23; Short-rib thoracic dysplasia 14 with polydactyly 2023-10-14 criteria provided, single submitter clinical testing This sequence change affects codon 1101 of the KIAA0586 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the KIAA0586 protein. This variant also falls at the last nucleotide of exon 23, which is part of the consensus splice site for this exon. This variant is present in population databases (rs540255320, gnomAD 0.02%). This variant has been observed in individual(s) with Joubert syndrome (PMID: 26096313; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 217667). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. Experimental studies have shown that this variant affects KIAA0586 function (PMID: 2609613). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.

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