ClinVar Miner

Submissions for variant NM_005609.4(PYGM):c.1957C>G (p.Leu653Val) (rs61736659)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000723589 SCV000113228 uncertain significance not provided 2013-03-11 criteria provided, single submitter clinical testing
GeneDx RCV000081310 SCV000565455 uncertain significance not specified 2017-04-26 criteria provided, single submitter clinical testing The L653V variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. It was not observed with any significant frequency in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project. The L653V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. However, this substitution occurs at a position that is conserved across species, and missense variants in nearby residues (N648Y; E655K) have been reported in the Human Gene Mutation Database in association with McArdle disease (Stenson et al., 2014). In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function.
Fulgent Genetics,Fulgent Genetics RCV000763760 SCV000894649 uncertain significance Glycogen storage disease, type V 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000763760 SCV001027702 benign Glycogen storage disease, type V 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000763760 SCV001265431 benign Glycogen storage disease, type V 2017-07-16 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. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.