NM_012123.4(MTO1):c.1368T>C (p.Thr456=) AND Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 28, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000230731.13
Allele description [Variation Report for NM_012123.4(MTO1):c.1368T>C (p.Thr456=)]
NM_012123.4(MTO1):c.1368T>C (p.Thr456=)
Condition(s)
- Name:
- Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
- Synonyms:
- CARDIOMYOPATHY, INFANTILE HYPERTROPHIC MITOCHONDRIAL, AND LACTIC ACIDOSIS; Combined oxidative phosphorylation deficiency 10
- Identifiers:
- MONDO: MONDO:0013865; MedGen: C4749921; Orphanet: 314637; OMIM: 614702
Assertion and evidence details
Last Updated: Oct 8, 2024