Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001878919 | SCV002146704 | uncertain significance | 2-aminoadipic 2-oxoadipic aciduria | 2023-10-07 | criteria provided, single submitter | clinical testing | This sequence change replaces leucine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 234 of the DHTKD1 protein (p.Leu234Gly). This variant is present in population databases (no rsID available, gnomAD 0.007%). This missense change has been observed in individual(s) with clinical features of autosomal recessive 2-aminoadipic 2-oxoadipic aciduria (PMID: 25860818). ClinVar contains an entry for this variant (Variation ID: 1371283). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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. |
| Ambry Genetics | RCV002551118 | SCV003627051 | uncertain significance | Inborn genetic diseases | 2022-08-05 | criteria provided, single submitter | clinical testing | The c.700_701delCTinsGG (p.L234G) alteration, located in exon 4 (coding exon 4) of the DHTKD1 gene, consists of an in-frame substitution of 2 nucleotides from position 700 to 701, resulting in the insertion of <NA> residues. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
| Mayo Clinic Laboratories, |
RCV003481153 | SCV004225201 | uncertain significance | not provided | 2022-11-22 | criteria provided, single submitter | clinical testing |