ClinVar Miner

Submissions for variant NM_001329943.3(KIAA0586):c.2437G>A (p.Val813Met)

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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 RCV003014166 SCV003311887 uncertain significance Joubert syndrome 23; Short-rib thoracic dysplasia 14 with polydactyly 2022-02-17 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with KIAA0586-related conditions. 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This variant is present in population databases (rs373130060, gnomAD 0.007%). This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 866 of the KIAA0586 protein (p.Val866Met).

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