NM_000232.5(SGCB):c.716T>C (p.Ile239Thr) AND Autosomal recessive limb-girdle muscular dystrophy type 2E
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- Jun 27, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001204378.5
Allele description [Variation Report for NM_000232.5(SGCB):c.716T>C (p.Ile239Thr)]
NM_000232.5(SGCB):c.716T>C (p.Ile239Thr)
Condition(s)
- Name:
- Autosomal recessive limb-girdle muscular dystrophy type 2E (LGMDR4)
- Synonyms:
- Limb-girdle muscular dystrophy, type 2E; Muscular dystrophy limb-girdle with beta-sarcoglycan deficiency; Beta-sarcoglycan limb-girdle muscular dystrophy; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0011423; MedGen: C1858593; Orphanet: 119; OMIM: 604286
Assertion and evidence details
Last Updated: May 1, 2024