ClinVar Miner

Submissions for variant NM_001329943.3(KIAA0586):c.3110C>G (p.Ser1037Cys)

dbSNP: rs367811307
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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 RCV002005304 SCV002260597 uncertain significance Joubert syndrome 23; Short-rib thoracic dysplasia 14 with polydactyly 2023-12-22 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 1090 of the KIAA0586 protein (p.Ser1090Cys). This variant is present in population databases (rs367811307, gnomAD 0.001%). 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: 1473624). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt KIAA0586 protein function with a negative predictive value of 80%. 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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