ClinVar Miner

Submissions for variant NM_001329943.3(KIAA0586):c.938A>G (p.Tyr313Cys)

gnomAD frequency: 0.00006  dbSNP: rs191232589
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001581835 SCV001817935 uncertain significance not provided 2023-05-17 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001882716 SCV002210421 uncertain significance Joubert syndrome 23; Short-rib thoracic dysplasia 14 with polydactyly 2022-09-13 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 1214101). This variant has not been reported in the literature in individuals affected with KIAA0586-related conditions. This variant is present in population databases (rs191232589, gnomAD 0.008%). This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 366 of the KIAA0586 protein (p.Tyr366Cys).

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