NM_000070.3(CAPN3):c.1714C>T (p.Arg572Trp) AND multiple conditions
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jul 20, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002500625.2
Allele description [Variation Report for NM_000070.3(CAPN3):c.1714C>T (p.Arg572Trp)]
NM_000070.3(CAPN3):c.1714C>T (p.Arg572Trp)
Condition(s)
- Name:
- Autosomal recessive limb-girdle muscular dystrophy type 2A (LGMDR1)
- Synonyms:
- Limb-girdle muscular dystrophy, type 2A; Limb-girdle muscular dystrophy type 2; Muscular dystrophy, pelvofemoral; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009675; MedGen: C1869123; Orphanet: 267; OMIM: 253600
Assertion and evidence details
Last Updated: Aug 4, 2024