Submissions for variant NM_014908.4(DOLK):c.186G>A (p.Arg62=)

gnomAD frequency: 0.00299  dbSNP: rs148171062

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000081678	SCV000113609	benign	not specified	2013-01-30	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000081678	SCV000269036	benign	not specified	2015-10-22	criteria provided, single submitter	clinical testing	p.Arg62Arg in exon 1 of DOLK: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. It has been identified in 0.4% (279/66586) of European chromosomes, including 1 homozygote by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs148171062).
Illumina Laboratory Services, Illumina	RCV000542365	SCV000477561	uncertain significance	DK1-congenital disorder of glycosylation	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
GeneDx	RCV001719843	SCV000527908	benign	not provided	2018-06-25	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000542365	SCV000638511	benign	DK1-congenital disorder of glycosylation	2025-02-03	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002408609	SCV002723478	benign	Cardiovascular phenotype	2018-12-03	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CeGaT Center for Human Genetics Tuebingen	RCV001719843	SCV004156448	likely benign	not provided	2025-01-01	criteria provided, single submitter	clinical testing	DOLK: BP4, BP7
PreventionGenetics, part of Exact Sciences	RCV003915086	SCV004736172	benign	DOLK-related disorder	2019-03-05	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).