ClinVar Miner

Submissions for variant NM_001329943.3(KIAA0586):c.3791A>T (p.Asp1264Val)

gnomAD frequency: 0.00001  dbSNP: rs1223415414
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001871241 SCV002144284 uncertain significance Joubert syndrome 23; Short-rib thoracic dysplasia 14 with polydactyly 2022-06-13 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 not present in population databases (gnomAD no frequency). This sequence change replaces aspartic acid, which is acidic and polar, with valine, which is neutral and non-polar, at codon 1317 of the KIAA0586 protein (p.Asp1317Val).
Ambry Genetics RCV004041067 SCV004892334 uncertain significance Inborn genetic diseases 2024-02-12 criteria provided, single submitter clinical testing The c.3563A>T (p.D1188V) alteration is located in exon 24 (coding exon 24) of the KIAA0586 gene. This alteration results from a A to T substitution at nucleotide position 3563, causing the aspartic acid (D) at amino acid position 1188 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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