Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001226715 | SCV001399038 | uncertain significance | DK1-congenital disorder of glycosylation | 2022-03-14 | criteria provided, single submitter | clinical testing | This sequence change replaces valine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 170 of the DOLK protein (p.Val170Gly). This variant is present in population databases (rs745609223, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with DOLK-related conditions. ClinVar contains an entry for this variant (Variation ID: 954280). 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 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 | RCV002339616 | SCV002642464 | uncertain significance | Cardiovascular phenotype | 2022-02-02 | criteria provided, single submitter | clinical testing | The p.V170G variant (also known as c.509T>G), located in coding exon 1 of the DOLK gene, results from a T to G substitution at nucleotide position 509. The valine at codon 170 is replaced by glycine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
| Fulgent Genetics, |
RCV001226715 | SCV002787055 | uncertain significance | DK1-congenital disorder of glycosylation | 2021-08-04 | criteria provided, single submitter | clinical testing |