ClinVar Miner

Submissions for variant NM_014908.3(DOLK):c.700A>G (p.Met234Val) (rs139787271)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000723494 SCV000113612 uncertain significance not provided 2012-10-08 criteria provided, single submitter clinical testing
GeneDx RCV000081681 SCV000574277 uncertain significance not specified 2017-03-24 criteria provided, single submitter clinical testing The M234V variant of uncertain significance in the DOLK gene has not been published as pathogenic or been reported as benign to our knowledge. This variant is observed in approximately 0.2% of alleles from individuals of European ancestry in the Exome Aggregation Consortium (ExAC) dataset (Lek et al., 2016). The M234V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is not conserved across species, and valine is the wild-type amino acid at this position in multiple species. Furthermore, in silico analysis predicts this variant likely does not alter the protein structure/function.
Invitae RCV001084826 SCV000638521 likely benign Congenital disorder of glycosylation type 1M 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001084826 SCV001331467 uncertain significance Congenital disorder of glycosylation type 1M 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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