List of variants reported as pathogenic for Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 13

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_003850.3(SUCLA2):c.985A>G (p.Met329Val)	rs200167311	0.00015
NM_003850.3(SUCLA2):c.348_355dup (p.Val119fs)	rs1425790333	0.00001
NM_003850.3(SUCLA2):c.478C>T (p.Arg160Ter)	rs1950124035	0.00001
NM_003850.3(SUCLA2):c.534+1G>A	rs113994161	0.00001
NM_003850.3(SUCLA2):c.850C>T (p.Arg284Cys)	rs121908538	0.00001
NC_000013.10:g.(?_48517506)_(48575405_?)del
NC_000013.10:g.(?_48517506)_(49070513_?)del
NC_000013.10:g.(?_48562656)_(48575405_?)del
NM_003850.3(SUCLA2):c.21C>G (p.Tyr7Ter)
NM_003850.3(SUCLA2):c.251dup (p.Tyr84Ter)	rs1309421397
NM_003850.3(SUCLA2):c.371+1G>C	rs985896883
NM_003850.3(SUCLA2):c.920C>T (p.Ala307Val)	rs1011464708
NM_003850.3(SUCLA2):c.998A>G (p.Asp333Gly)

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.