ClinVar Miner

Submissions for variant NM_018706.7(DHTKD1):c.2175G>C (p.Glu725Asp)

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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 RCV002851548 SCV003220026 uncertain significance 2-aminoadipic 2-oxoadipic aciduria 2022-07-15 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with aspartic acid, which is acidic and polar, at codon 725 of the DHTKD1 protein (p.Glu725Asp). 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 tolerated. This variant has not been reported in the literature in individuals affected with DHTKD1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.01%).

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