NM_001927.4(DES):c.1374C>T (p.Val458=) AND Desmin-related myofibrillar myopathy
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Dec 24, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001458336.7
Allele description [Variation Report for NM_001927.4(DES):c.1374C>T (p.Val458=)]
NM_001927.4(DES):c.1374C>T (p.Val458=)
Condition(s)
- Name:
- Desmin-related myofibrillar myopathy (MFM1)
- Synonyms:
- Desminopathy; Desmin related myopathy (former name); Desmin storage myopathy (former name); See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0011076; MedGen: C1832370; Orphanet: 363543; Orphanet: 98909; OMIM: 601419
Assertion and evidence details
Last Updated: Sep 29, 2024