Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001298633 | SCV001487696 | uncertain significance | Congenital disorder of glycosylation type Ir | 2023-03-03 | 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. 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. ClinVar contains an entry for this variant (Variation ID: 1002236). This variant has not been reported in the literature in individuals affected with DDOST-related conditions. This variant is present in population databases (rs774094300, gnomAD 0.004%). This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 254 of the DDOST protein (p.Arg254His). |
Baylor Genetics | RCV001298633 | SCV001524952 | uncertain significance | Congenital disorder of glycosylation type Ir | 2019-12-13 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |