ClinVar Miner

Submissions for variant NM_001329943.3(KIAA0586):c.831C>T (p.Leu277=)

gnomAD frequency: 0.00003  dbSNP: rs780520735
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000535889 SCV000655672 pathogenic Joubert syndrome 23; Short-rib thoracic dysplasia 14 with polydactyly 2021-09-05 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this silent change causes aberrant splicing, resulting in the loss of exon 9 and a frameshift in the mRNA (PMID: 26386044). This variant has been observed on the opposite chromosome (in trans) from a pathogenic variant in an individual affected with features of asphyxiating thoracic dystrophy (Jeune syndrome) and Joubert syndrome (PMID: 26386044), and in combination with another rare variant in an individual affected with Joubert syndrome (PMID: 28497568). In addition, this variant has been observed to segregate with Joubert syndrome in a family (Invitae). This variant is present in population databases (rs780520735, ExAC 0.005%). This sequence change affects codon 330 of the KIAA0586 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the KIAA0586 protein.

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