NM_001100.4(ACTA1):c.329C>T (p.Ala110Val) AND Actin accumulation myopathy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 20, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003766944.2
Allele description [Variation Report for NM_001100.4(ACTA1):c.329C>T (p.Ala110Val)]
NM_001100.4(ACTA1):c.329C>T (p.Ala110Val)
Condition(s)
- Name:
- Actin accumulation myopathy (CMYO2A)
- Synonyms:
- Nemaline myopathy caused by mutation in the alpha-actin gene; CONGENITAL MYOPATHY 2A, TYPICAL, AUTOSOMAL DOMINANT; Myopathy, actin, congenital, with cores; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008070; MedGen: C3711389; OMIM: 161800
Assertion and evidence details
Last Updated: Sep 29, 2024