NM_003172.4(SURF1):c.575G>A (p.Arg192Gln) AND Leigh syndrome
- Germline classification:
- Conflicting interpretations of pathogenicity (2 submissions)
- Last evaluated:
- Mar 29, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001797902.3
Allele description [Variation Report for NM_003172.4(SURF1):c.575G>A (p.Arg192Gln)]
NM_003172.4(SURF1):c.575G>A (p.Arg192Gln)
Condition(s)
- Name:
- Leigh syndrome (NULS)
- Synonyms:
- Leigh Disease; Subacute necrotizing encephalopathy; Necrotizing encephalopathy infantile subacute of Leigh; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009723; MedGen: C0023264; Orphanet: 506; OMIM: 256000
Assertion and evidence details
Last Updated: Jun 9, 2024