ClinVar Miner

Submissions for variant NM_014908.4(DOLK):c.725G>A (p.Ser242Asn)

gnomAD frequency: 0.00001  dbSNP: rs876657786
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000217175 SCV000271702 uncertain significance not specified 2015-05-06 criteria provided, single submitter clinical testing The p.Ser242Asn variant in DOLK has not been previously reported in individuals with cardiomyopathy or in large population studies. Computational prediction too ls and conservation analysis do not provide strong support for or against an imp act to the protein. In summary, the clinical significance of the p.Ser242Asn var iant is uncertain.
Labcorp Genetics (formerly Invitae), Labcorp RCV000639758 SCV000761339 uncertain significance DK1-congenital disorder of glycosylation 2021-10-30 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 242 of the DOLK protein (p.Ser242Asn). 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: 228619). 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, Fulgent Genetics RCV000639758 SCV002786144 uncertain significance DK1-congenital disorder of glycosylation 2021-09-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV003298280 SCV003999103 uncertain significance Cardiovascular phenotype 2023-04-03 criteria provided, single submitter clinical testing The p.S242N variant (also known as c.725G>A), located in coding exon 1 of the DOLK gene, results from a G to A substitution at nucleotide position 725. The serine at codon 242 is replaced by asparagine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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