Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002033604 | SCV002273514 | uncertain significance | 2-aminoadipic 2-oxoadipic aciduria | 2023-12-01 | criteria provided, single submitter | clinical testing | This sequence change falls in intron 1 of the DHTKD1 gene. It does not directly change the encoded amino acid sequence of the DHTKD1 protein. This variant is present in population databases (rs746248223, gnomAD 0.0009%). 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: 1487636). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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. |