NM_000231.3(SGCG):c.721del (p.Thr241fs) AND Autosomal recessive limb-girdle muscular dystrophy type 2C
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Oct 7, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000669602.1
Allele description [Variation Report for NM_000231.3(SGCG):c.721del (p.Thr241fs)]
NM_000231.3(SGCG):c.721del (p.Thr241fs)
Condition(s)
- Name:
- Autosomal recessive limb-girdle muscular dystrophy type 2C (LGMDR5)
- Synonyms:
- Limb-girdle muscular dystrophy with gamma-sarcoglycan deficiency; Muscular dystrophy, Duchenne-like; Duchenne-like muscular dystrophy, autosomal recessive, type 1; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009677; MedGen: C0410173; Orphanet: 353; OMIM: 253700
Assertion and evidence details
Last Updated: Aug 5, 2023