ClinVar Miner

Submissions for variant NM_001329943.3(KIAA0586):c.1656G>A (p.Gln552=)

gnomAD frequency: 0.00001  dbSNP: rs762081862
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001268478 SCV001447434 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001389448 SCV001590822 pathogenic Joubert syndrome 23; Short-rib thoracic dysplasia 14 with polydactyly 2022-09-21 criteria provided, single submitter clinical testing This sequence change affects codon 605 of the KIAA0586 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the KIAA0586 protein. RNA analysis indicates that this variant induces altered splicing and may result in an absent or disrupted protein product. This variant is present in population databases (rs762081862, gnomAD 0.005%). This variant has been observed in individuals with short-rib thoracic dysplasia (PMID: 2080096, 26166481). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 208813). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Studies have shown that this variant results in exon 14 skipping and introduces a premature termination codon (PMID: 26166481). The resulting mRNA is expected to undergo nonsense-mediated decay. For these reasons, this variant has been classified as Pathogenic.
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000190841 SCV003920928 pathogenic Short-rib thoracic dysplasia 14 with polydactyly 2022-07-27 criteria provided, single submitter clinical testing
OMIM RCV000190841 SCV000245711 pathogenic Short-rib thoracic dysplasia 14 with polydactyly 2015-08-06 no assertion criteria provided literature only

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