ClinVar Miner

Submissions for variant NM_001329943.3(KIAA0586):c.4525C>G (p.Gln1509Glu)

dbSNP: rs1203731997
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003783055 SCV004603344 uncertain significance Joubert syndrome 23; Short-rib thoracic dysplasia 14 with polydactyly 2024-01-08 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with arginine, which is basic and polar, at codon 1590 of the KIAA0586 protein (p.Thr1590Arg). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with KIAA0586-related conditions. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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