ClinVar Miner

Submissions for variant NM_018706.7(DHTKD1):c.1219C>T (p.Arg407Cys)

gnomAD frequency: 0.00001  dbSNP: rs779372510
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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 RCV002591556 SCV003495380 uncertain significance 2-aminoadipic 2-oxoadipic aciduria 2023-09-22 criteria provided, single submitter clinical testing This variant is present in population databases (rs779372510, gnomAD 0.01%). 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 expected to disrupt DHTKD1 protein function. ClinVar contains an entry for this variant (Variation ID: 2178779). This missense change has been observed in individual(s) with DHTKD1-related conditions (PMID: 32005694). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 407 of the DHTKD1 protein (p.Arg407Cys).

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