NM_003172.4(SURF1):c.321C>T (p.Ala107=) AND Leigh syndrome
- Germline classification:
- Conflicting interpretations of pathogenicity (2 submissions)
- Last evaluated:
- Jan 25, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000874503.13
Allele description [Variation Report for NM_003172.4(SURF1):c.321C>T (p.Ala107=)]
NM_003172.4(SURF1):c.321C>T (p.Ala107=)
Condition(s)
- Name:
- Leigh syndrome (LS)
- 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: Mar 5, 2024