Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001304518 | SCV001493803 | uncertain significance | DK1-congenital disorder of glycosylation | 2022-02-25 | criteria provided, single submitter | clinical testing | This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 439 of the DOLK protein (p.Val439Ile). This variant is present in population databases (rs372057636, gnomAD 0.006%). 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: 1007345). 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. 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. |
| Fulgent Genetics, |
RCV001304518 | SCV002781565 | uncertain significance | DK1-congenital disorder of glycosylation | 2021-10-12 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV004619610 | SCV005114084 | uncertain significance | Cardiovascular phenotype | 2024-06-21 | criteria provided, single submitter | clinical testing | The p.V439I variant (also known as c.1315G>A), located in coding exon 1 of the DOLK gene, results from a G to A substitution at nucleotide position 1315. The valine at codon 439 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear. |