NM_004168.4(SDHA):c.1652C>T (p.Thr551Met) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 31, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002475896.1
Allele description [Variation Report for NM_004168.4(SDHA):c.1652C>T (p.Thr551Met)]
NM_004168.4(SDHA):c.1652C>T (p.Thr551Met)
Condition(s)
- Name:
- Mitochondrial complex II deficiency, nuclear type 1
- Synonyms:
- Mitochondrial complex II deficiency; Complex 2 mitochondrial respiratory chain deficiency; Succinate CoQ reductase deficiency
- Identifiers:
- MONDO: MONDO:0100294; MedGen: C5700310; Orphanet: 3208; OMIM: 252011
- Name:
- Dilated cardiomyopathy 1GG (CMD1GG)
- Identifiers:
- MONDO: MONDO:0013339; MedGen: C3150898; Orphanet: 154; OMIM: 613642
Assertion and evidence details
Last Updated: Sep 29, 2024