ClinVar Miner

Submissions for variant NM_018706.7(DHTKD1):c.781G>A (p.Val261Ile)

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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 RCV003821646 SCV004628596 uncertain significance 2-aminoadipic 2-oxoadipic aciduria 2023-04-09 criteria provided, single submitter clinical testing This variant is present in population databases (rs377037358, gnomAD 0.003%). This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 261 of the DHTKD1 protein (p.Val261Ile). This variant has not been reported in the literature in individuals affected with DHTKD1-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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt DHTKD1 protein function.

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