ClinVar Miner

Submissions for variant NM_001329943.3(KIAA0586):c.365A>G (p.Tyr122Cys)

dbSNP: rs746136288
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000652579 SCV000774449 uncertain significance Joubert syndrome 23; Short-rib thoracic dysplasia 14 with polydactyly 2022-07-21 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 134 of the KIAA0586 protein (p.Tyr134Cys). This variant is present in population databases (rs746136288, gnomAD 0.004%). 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: 542187). 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: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
GeneDx RCV002461989 SCV002756982 uncertain significance not provided 2022-11-15 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); 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
Ambry Genetics RCV002531997 SCV003538267 uncertain significance Inborn genetic diseases 2022-12-28 criteria provided, single submitter clinical testing The c.365A>G (p.Y122C) alteration is located in exon 4 (coding exon 4) of the KIAA0586 gene. This alteration results from a A to G substitution at nucleotide position 365, causing the tyrosine (Y) at amino acid position 122 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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