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NM_000257.4(MYH7):c.1208G>T (p.Arg403Leu) AND Hypertrophic cardiomyopathy 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 1, 1993
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria 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:
RCV000015157.22

Allele description [Variation Report for NM_000257.4(MYH7):c.1208G>T (p.Arg403Leu)]

NM_000257.4(MYH7):c.1208G>T (p.Arg403Leu)

Gene:
MYH7:myosin heavy chain 7 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q11.2
Genomic location:
Preferred name:
NM_000257.4(MYH7):c.1208G>T (p.Arg403Leu)
Other names:
p.R403L:CGG>CTG
HGVS:
  • NC_000014.9:g.23429278C>A
  • NG_007884.1:g.11384G>T
  • NM_000257.4:c.1208G>TMANE SELECT
  • NP_000248.2:p.Arg403Leu
  • LRG_384t1:c.1208G>T
  • LRG_384:g.11384G>T
  • LRG_384p1:p.Arg403Leu
  • NC_000014.8:g.23898487C>A
  • NM_000257.2:c.1208G>T
  • P12883:p.Arg403Leu
Protein change:
R403L; ARG403LEU
Links:
UniProtKB: P12883#VAR_004573; OMIM: 160760.0014; dbSNP: rs121913624
NCBI 1000 Genomes Browser:
rs121913624
Molecular consequence:
  • NM_000257.4:c.1208G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hypertrophic cardiomyopathy 1
Synonyms:
Familial hypertrophic cardiomyopathy 1; MYH7-Related Familial Hypertrophic Cardiomyopathy
Identifiers:
MONDO: MONDO:0008647; MedGen: C3495498; OMIM: 192600

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000035414OMIM
no assertion criteria provided
Pathogenic
(Dec 1, 1993) 		germlineliterature only

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

Help

Summary from all submissions

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

Citations

PubMed

Familial hypertrophic cardiomyopathy. Microsatellite haplotyping and identification of a hot spot for mutations in the beta-myosin heavy chain gene.

Dausse E, Komajda M, Fetler L, Dubourg O, Dufour C, Carrier L, Wisnewsky C, Bercovici J, Hengstenberg C, al-Mahdawi S, et al.

J Clin Invest. 1993 Dec;92(6):2807-13.

PubMed [citation]
PMID:
8254035
PMCID:
PMC288481

Details of each submission

From OMIM, SCV000035414.2

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

Description

In 2 French pedigrees with familial hypertrophic cardiomyopathy (CMH1; 192600), Dausse et al. (1993) performed linkage analysis using 2 microsatellite markers located in the MYH7 gene, as well as 4 highly informative markers that mapped to the 14q11-q12 region. Linkage to the markers was found in pedigree 720, but results were not conclusive for pedigree 730. Haplotype of 6 markers allowed identification of affected individuals and of some unaffected subjects who were carrying the disease gene. Two novel missense mutations were identified in exon 13 by direct sequencing: arg403 to leu (R403L) and arg403 to trp (R403W) in families 720 and 730, respectively. The arg403-to-leu mutation was associated with incomplete penetrance, a high incidence of sudden deaths and severe cardiac events, whereas the consequences of the arg403-to-trp mutation appeared to be less severe. Codon 403 of the MYH7 gene appears, therefore, to be a hotspot for mutations causing CMH. The first mutation identified in this disorder involved codon 403 (160760.0001).

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

Last Updated: May 1, 2024