ClinVar Miner

Submissions for variant NM_005566.4(LDHA):c.410C>A (p.Ser137Ter)

gnomAD frequency: 0.00001  dbSNP: rs777988373
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003629716 SCV004531741 pathogenic Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency 2024-06-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser137*) in the LDHA gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in LDHA are known to be pathogenic (PMID: 1959923). This variant is present in population databases (rs777988373, gnomAD 0.003%). This premature translational stop signal has been observed in individual(s) with clinical features of glycogen storage disease (PMID: 36292720). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV003629716 SCV005676201 pathogenic Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency 2024-03-15 criteria provided, single submitter 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.