NM_001927.3(DES):c.1078G>C (p.Ala360Pro) AND Myofibrillar myopathy 1

Clinical significance:Pathogenic (Last evaluated: Aug 1, 1998)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000018315.24

Allele description

NM_001927.3(DES):c.1078G>C (p.Ala360Pro)

Gene:
DES:desmin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q35
Genomic location:
Preferred name:
NM_001927.3(DES):c.1078G>C (p.Ala360Pro)
HGVS:
  • NC_000002.12:g.219421394G>C
  • NG_008043.1:g.8018G>C
  • NM_001927.3:c.1078G>C
  • NP_001918.3:p.Ala360Pro
  • LRG_380t1:c.1078G>C
  • LRG_380:g.8018G>C
  • LRG_380p1:p.Ala360Pro
  • NC_000002.11:g.220286116G>C
  • P17661:p.Ala360Pro
Protein change:
A360P; ALA360PRO
Links:
UniProtKB: P17661#VAR_007901; OMIM: 125660.0002; dbSNP: rs121913000
NCBI 1000 Genomes Browser:
rs121913000
Molecular consequence:
  • NM_001927.3:c.1078G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Myofibrillar myopathy 1 (MFM1)
Synonyms:
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED; Desminopathy; MYOFIBRILLAR MYOPATHY WITH ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY; See all synonyms [MedGen]
Identifiers:
MedGen: C1832370; Orphanet: 98909; OMIM: 601419

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000038594OMIMno assertion criteria providedPathogenic
(Aug 1, 1998)
germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Missense mutations in desmin associated with familial cardiac and skeletal myopathy.

Goldfarb LG, Park KY, Cervenáková L, Gorokhova S, Lee HS, Vasconcelos O, Nagle JW, Semino-Mora C, Sivakumar K, Dalakas MC.

Nat Genet. 1998 Aug;19(4):402-3.

PubMed [citation]
PMID:
9697706

Details of each submission

From OMIM, SCV000038594.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In 3 of 4 sibs affected with a severe childhood-onset form of cardioskeletal myopathy (MFM1; 601419), Goldfarb et al. (1998) identified compound heterozygosity for 2 mutations in the DES gene: a G-to-C transversion in exon 6, resulting in an ala360-to-pro (A360P) substitution, and an A-to-T transversion in exon 6, resulting in an asn393-to-ile (N393I) substitution (125660.0003). Several older unaffected members of the family who were beyond the maximal age of disease onset had 1 of these mutations; the 55-year-old mother of the affected sibs and her 54-year-old sister showed the A360P mutation, and a 66-year-old paternal uncle carried the N393I mutation.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 30, 2019

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