ClinVar Miner

Submissions for variant NM_018706.7(DHTKD1):c.1267G>A (p.Val423Met)

dbSNP: rs761350668
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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 RCV002020148 SCV002289442 uncertain significance 2-aminoadipic 2-oxoadipic aciduria 2024-10-19 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 423 of the DHTKD1 protein (p.Val423Met). This variant is present in population databases (rs761350668, gnomAD 0.01%). This missense change has been observed in individual(s) with clinical features of Charcot-Marie-Tooth disease (internal data). ClinVar contains an entry for this variant (Variation ID: 1502268). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt DHTKD1 protein function with a positive predictive value of 80%. 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.

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