ClinVar Miner

Submissions for variant NM_018706.7(DHTKD1):c.1769G>A (p.Arg590His)

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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 RCV002605814 SCV002976183 uncertain significance 2-aminoadipic 2-oxoadipic aciduria 2022-04-08 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. This variant has not been reported in the literature in individuals affected with DHTKD1-related conditions. This variant is present in population databases (rs139836411, gnomAD 0.005%). This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 590 of the DHTKD1 protein (p.Arg590His).

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