Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute for Clinical Genetics, |
RCV003238031 | SCV002011673 | uncertain significance | not provided | 2021-11-03 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV001771757 | SCV002785833 | uncertain significance | DK1-congenital disorder of glycosylation | 2021-09-08 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001771757 | SCV003243502 | uncertain significance | DK1-congenital disorder of glycosylation | 2022-10-17 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 109 of the DOLK protein (p.Arg109Gly). This variant is present in population databases (no rsID available, gnomAD 0.002%). 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: 1319776). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on DOLK protein function. 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 | RCV003163908 | SCV003913728 | uncertain significance | Cardiovascular phenotype | 2024-04-26 | criteria provided, single submitter | clinical testing | The c.325C>G (p.R109G) alteration is located in exon 1 (coding exon 1) of the DOLK gene. This alteration results from a C to G substitution at nucleotide position 325, causing the arginine (R) at amino acid position 109 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV003479350 | SCV004222973 | uncertain significance | not specified | 2023-11-20 | criteria provided, single submitter | clinical testing |