NM_002294.3(LAMP2):c.32G>T (p.Gly11Val) AND Danon disease
- Germline classification:
- Conflicting interpretations of pathogenicity (2 submissions)
- Last evaluated:
- Jan 30, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000816392.6
Allele description [Variation Report for NM_002294.3(LAMP2):c.32G>T (p.Gly11Val)]
NM_002294.3(LAMP2):c.32G>T (p.Gly11Val)
Condition(s)
- Name:
- Danon disease
- Synonyms:
- PSEUDOGLYCOGENOSIS II; GSD IIb; LYSOSOMAL GLYCOGEN STORAGE DISEASE WITHOUT ACID MALTASE DEFICIENCY; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010281; MedGen: C0878677; Orphanet: 34587; OMIM: 300257
Assertion and evidence details
Last Updated: May 1, 2024