NM_001003800.2(BICD2):c.2058G>C (p.Lys686Asn) AND Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 29, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003582441.1
Allele description [Variation Report for NM_001003800.2(BICD2):c.2058G>C (p.Lys686Asn)]
NM_001003800.2(BICD2):c.2058G>C (p.Lys686Asn)
Condition(s)
- Name:
- Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures (SMALED2A)
- Synonyms:
- SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2A, CHILDHOOD ONSET, AUTOSOMAL DOMINANT; Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant
- Identifiers:
- MONDO: MONDO:0014121; MedGen: C4747715; Orphanet: 363447; Orphanet: 363454; OMIM: 615290
Assertion and evidence details
Last Updated: Feb 20, 2024