ClinVar Miner

Submissions for variant NM_018706.7(DHTKD1):c.610G>A (p.Glu204Lys)

gnomAD frequency: 0.00003  dbSNP: rs751438050
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000694529 SCV000822979 uncertain significance 2-aminoadipic 2-oxoadipic aciduria 2023-10-22 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 204 of the DHTKD1 protein (p.Glu204Lys). This variant is present in population databases (rs751438050, gnomAD 0.009%). 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: 572993). 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. 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.
GeneDx RCV002256474 SCV002526608 uncertain significance not provided 2021-12-15 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function
Ambry Genetics RCV004609492 SCV005104462 uncertain significance Inborn genetic diseases 2024-03-19 criteria provided, single submitter clinical testing The c.610G>A (p.E204K) alteration is located in exon 4 (coding exon 4) of the DHTKD1 gene. This alteration results from a G to A substitution at nucleotide position 610, causing the glutamic acid (E) at amino acid position 204 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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