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 2021-04-13 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has been observed in individual(s) with clinical features of Charcot-Marie-Tooth disease (Invitae). This variant is present in population databases (rs761350668, ExAC 0.01%). This sequence change replaces valine with methionine at codon 423 of the DHTKD1 protein (p.Val423Met). The valine residue is moderately conserved and there is a small physicochemical difference between valine and methionine.

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