NM_017866.6(TMEM70):c.11T>G (p.Leu4Arg) AND Mitochondrial complex V (ATP synthase) deficiency nuclear type 2
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 30, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001984844.5
Allele description [Variation Report for NM_017866.6(TMEM70):c.11T>G (p.Leu4Arg)]
NM_017866.6(TMEM70):c.11T>G (p.Leu4Arg)
Condition(s)
- Name:
- Mitochondrial complex V (ATP synthase) deficiency nuclear type 2
- Synonyms:
- ENCEPHALOCARDIOMYOPATHY, MITOCHONDRIAL, NEONATAL, DUE TO ATP SYNTHASE DEFICIENCY; MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, TMEM70 TYPE; Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0013546; MedGen: C3279699; Orphanet: 1194; OMIM: 614052
Assertion and evidence details
Last Updated: Mar 5, 2024