ClinVar Miner

Submissions for variant NM_014908.4(DOLK):c.719T>C (p.Phe240Ser)

gnomAD frequency: 0.00001  dbSNP: rs765475110
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp 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, Fulgent Genetics RCV001035574 SCV002785855 uncertain significance DK1-congenital disorder of glycosylation 2021-09-02 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.