NM_001100.4(ACTA1):c.881A>T (p.Asp294Val) AND Congenital myopathy with fiber type disproportion

Germline classification:: not provided (1 submission)
Review status:: no classification provided

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000019951.33

Allele description [Variation Report for NM_001100.4(ACTA1):c.881A>T (p.Asp294Val)]

NM_001100.4(ACTA1):c.881A>T (p.Asp294Val)

Gene:

ACTA1:actin alpha 1, skeletal muscle [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q42.13

Genomic location:

Preferred name:

NM_001100.4(ACTA1):c.881A>T (p.Asp294Val)

Other names:

D292V

HGVS:

NC_000001.11:g.229431830T>A
NG_006672.1:g.7267A>T
NM_001100.4:c.881A>TMANE SELECT
NP_001091.1:p.Asp294Val
NP_001091.1:p.Asp294Val
LRG_429t1:c.881A>T
LRG_429:g.7267A>T
LRG_429p1:p.Asp294Val
NC_000001.10:g.229567577T>A
NM_001100.3:c.881A>T
P68133:p.Asp294Val

Protein change:

D294V; ASP292VAL

Links:

UniProtKB: P68133#VAR_032918; OMIM: 102610.0011; dbSNP: rs121909529

NCBI 1000 Genomes Browser:

rs121909529

Molecular consequence:

NM_001100.4:c.881A>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Congenital myopathy with fiber type disproportion
Synonyms:: Congenital fiber-type disproportion myopathy; Congenital fiber-type disproportion
Identifiers:: MONDO: MONDO:0009711; MedGen: C0546264; Orphanet: 2020

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000058546	GeneReviews	no classification provided	not provided	unknown	literature only	PubMed (2) [See all records that cite these PMIDs] 15468086, 20301436

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000058546

GeneReviews

no classification provided

not provided

unknown

literature only

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Actin mutations are one cause of congenital fibre type disproportion.

Laing NG, Clarke NF, Dye DE, Liyanage K, Walker KR, Kobayashi Y, Shimakawa S, Hagiwara T, Ouvrier R, Sparrow JC, Nishino I, North KN, Nonaka I.

Ann Neurol. 2004 Nov;56(5):689-94.

PubMed [citation]

PMID:: 15468086

Congenital Fiber-Type Disproportion – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY..

DeChene ET, Kang PB, Beggs AH.

2007 Jan 12 [updated 2013 Apr 11]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(®) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025.

PubMed [citation]

PMID:: 20301436

Details of each submission

From GeneReviews, SCV000058546.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (2)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	not provided	not provided	not provided	Assert pathogenicity		not provided	not provided	not provided	not provided

Last Updated: Mar 16, 2025

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