NM_133259.4(LRPPRC):c.1944_1947del (p.Ser648fs) AND Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Feb 3, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003469971.1
Allele description [Variation Report for NM_133259.4(LRPPRC):c.1944_1947del (p.Ser648fs)]
NM_133259.4(LRPPRC):c.1944_1947del (p.Ser648fs)
Condition(s)
- Name:
- Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type (MC4DN5)
- Synonyms:
- Leigh syndrome, French Canadian type; Cox deficiency, French Canadian type; Cox deficiency, Saguenay Lac saint Jean type; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009069; MedGen: C1857355; Orphanet: 70472; OMIM: 220111
Assertion and evidence details
Last Updated: Dec 30, 2023