ClinVar Miner

Submissions for variant NM_005566.4(LDHA):c.608G>C (p.Gly203Ala)

gnomAD frequency: 0.00181  dbSNP: rs34305721
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000423489 SCV000520677 benign not specified 2016-04-13 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV001104040 SCV001122564 benign Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency 2024-01-19 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001104040 SCV001260867 benign Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency 2017-04-27 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). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Mayo Clinic Laboratories, Mayo Clinic RCV000675426 SCV000801106 likely benign not provided 2017-04-24 no assertion criteria provided clinical testing

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.