ClinVar Miner

Submissions for variant NM_001329943.3(KIAA0586):c.768G>T (p.Arg256Ser)

dbSNP: rs757161449
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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 RCV002637761 SCV003518054 uncertain significance Joubert syndrome 23; Short-rib thoracic dysplasia 14 with polydactyly 2022-08-09 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly 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. This sequence change replaces arginine, which is basic and polar, with serine, which is neutral and polar, at codon 309 of the KIAA0586 protein (p.Arg309Ser).
Ambry Genetics RCV002637762 SCV003644758 uncertain significance Inborn genetic diseases 2022-08-01 criteria provided, single submitter clinical testing The c.768G>T (p.R256S) alteration is located in exon 6 (coding exon 6) of the KIAA0586 gene. This alteration results from a G to T substitution at nucleotide position 768, causing the arginine (R) at amino acid position 256 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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