ClinVar Miner

Submissions for variant NM_001329943.3(KIAA0586):c.1259C>T (p.Pro420Leu)

gnomAD frequency: 0.00014  dbSNP: rs187783779
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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 RCV001927931 SCV002170163 uncertain significance Joubert syndrome 23; Short-rib thoracic dysplasia 14 with polydactyly 2022-11-01 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 473 of the KIAA0586 protein (p.Pro473Leu). This variant is present in population databases (rs187783779, gnomAD 0.06%). 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: 1405191). 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 expected to disrupt KIAA0586 protein function. 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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