Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV001331063 | SCV001522983 | uncertain significance | 2-aminoadipic 2-oxoadipic aciduria | 2019-03-01 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Labcorp Genetics |
RCV001331063 | SCV002196455 | uncertain significance | 2-aminoadipic 2-oxoadipic aciduria | 2021-04-30 | criteria provided, single submitter | clinical testing | 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with DHTKD1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1029712). This variant is present in population databases (rs201559023, ExAC 0.002%). This sequence change replaces threonine with arginine at codon 461 of the DHTKD1 protein (p.Thr461Arg). The threonine residue is moderately conserved and there is a moderate physicochemical difference between threonine and arginine. |