ClinVar Miner

Submissions for variant NM_001329943.3(KIAA0586):c.831C>T (p.Leu277=) (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 2018-01-03 criteria provided, single submitter clinical testing 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. This variant is present in population databases (rs780520735, ExAC 0.005%). 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). 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). For these reasons, this variant has been classified as Pathogenic.

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