Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001035574 | SCV001198907 | uncertain significance | DK1-congenital disorder of glycosylation | 2019-03-07 | 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with DOLK-related conditions. This variant is present in population databases (rs765475110, ExAC 0.003%). This sequence change replaces phenylalanine with serine at codon 240 of the DOLK protein (p.Phe240Ser). The phenylalanine residue is moderately conserved and there is a large physicochemical difference between phenylalanine and serine. |
Ambry Genetics | RCV002372742 | SCV002670165 | uncertain significance | Cardiovascular phenotype | 2024-07-01 | criteria provided, single submitter | clinical testing | The p.F240S variant (also known as c.719T>C), located in coding exon 1 of the DOLK gene, results from a T to C substitution at nucleotide position 719. The phenylalanine at codon 240 is replaced by serine, an amino acid with highly dissimilar properties. This amino acid position is well conserved in available vertebrate species. 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, |
RCV001035574 | SCV002785855 | uncertain significance | DK1-congenital disorder of glycosylation | 2021-09-02 | criteria provided, single submitter | clinical testing |