ClinVar Miner

Submissions for variant NM_001329943.3(KIAA0586):c.3574C>T (p.Pro1192Ser)

gnomAD frequency: 0.00001  dbSNP: rs772493061
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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 RCV002596247 SCV003503592 uncertain significance Joubert syndrome 23; Short-rib thoracic dysplasia 14 with polydactyly 2022-03-23 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 1245 of the KIAA0586 protein (p.Pro1245Ser). This variant is present in population databases (rs772493061, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with KIAA0586-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0". The serine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect 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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