ClinVar Miner

Submissions for variant NM_001329943.3(KIAA0586):c.38dup (p.Ile14fs)

dbSNP: rs745949846
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000697398 SCV000826006 pathogenic Joubert syndrome 23; Short-rib thoracic dysplasia 14 with polydactyly 2023-11-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ile26Aspfs*2) 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). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with KIAA0586-related conditions. ClinVar contains an entry for this variant (Variation ID: 575236). 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.
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV001029892 SCV001192683 pathogenic Short-rib thoracic dysplasia 14 with polydactyly 2019-03-19 no assertion criteria provided clinical testing

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