ClinVar Miner

Submissions for variant NM_018706.7(DHTKD1):c.1792C>T (p.Arg598Cys)

gnomAD frequency: 0.00002  dbSNP: rs375292909
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000662099 SCV000784439 uncertain significance Charcot-Marie-Tooth disease axonal type 2Q 2018-03-05 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000662100 SCV000784440 uncertain significance 2-aminoadipic 2-oxoadipic aciduria 2018-03-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV003163049 SCV003891902 uncertain significance Inborn genetic diseases 2023-01-17 criteria provided, single submitter clinical testing The c.1792C>T (p.R598C) alteration is located in exon 10 (coding exon 10) of the DHTKD1 gene. This alteration results from a C to T substitution at nucleotide position 1792, causing the arginine (R) at amino acid position 598 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Invitae RCV000662100 SCV004276410 uncertain significance 2-aminoadipic 2-oxoadipic aciduria 2023-11-04 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 598 of the DHTKD1 protein (p.Arg598Cys). This variant is present in population databases (rs375292909, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with DHTKD1-related conditions. ClinVar contains an entry for this variant (Variation ID: 548564). 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 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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