ClinVar Miner

Submissions for variant NM_014908.4(DOLK):c.325C>G (p.Arg109Gly)

dbSNP: rs755188614
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV003238031 SCV002011673 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001771757 SCV002785833 uncertain significance DK1-congenital disorder of glycosylation 2021-09-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp 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, LabCorp RCV003479350 SCV004222973 uncertain significance not specified 2023-11-20 criteria provided, single submitter clinical testing

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