ClinVar Miner

Submissions for variant NM_014908.4(DOLK):c.8G>A (p.Arg3Gln)

gnomAD frequency: 0.00002  dbSNP: rs373115419
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001040355 SCV001203923 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 glutamine, which is neutral and polar, at codon 3 of the DOLK protein (p.Arg3Gln). This variant is present in population databases (rs373115419, gnomAD 0.005%). 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: 838748). 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.
Ambry Genetics RCV002372768 SCV002686276 uncertain significance Cardiovascular phenotype 2023-01-22 criteria provided, single submitter clinical testing The p.R3Q variant (also known as c.8G>A), located in coding exon 1 of the DOLK gene, results from a G to A substitution at nucleotide position 8. The arginine at codon 3 is replaced by glutamine, an amino acid with highly similar 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 RCV001040355 SCV002786946 uncertain significance DK1-congenital disorder of glycosylation 2021-07-20 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004693477 SCV005191136 uncertain significance not provided criteria provided, single submitter not provided

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