Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001358927 | SCV001554784 | uncertain significance | DK1-congenital disorder of glycosylation | 2022-06-23 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 475 of the DOLK protein (p.Gly475Val). This variant is not present in population databases (gnomAD no frequency). 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: 1050954). 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. |
| Fulgent Genetics, |
RCV001358927 | SCV002785008 | uncertain significance | DK1-congenital disorder of glycosylation | 2021-12-02 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV004995704 | SCV005578608 | uncertain significance | Cardiovascular phenotype | 2024-11-11 | criteria provided, single submitter | clinical testing | The c.1424G>T (p.G475V) alteration is located in exon 1 (coding exon 1) of the DOLK gene. This alteration results from a G to T substitution at nucleotide position 1424, causing the glycine (G) at amino acid position 475 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |