NM_000257.4(MYH7):c.728G>A (p.Arg243His) AND Left ventricular noncompaction 5

Clinical significance:Pathogenic (Last evaluated: Jun 3, 2008)

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

no assertion criteria provided

Based on:
1 submission [Details]
Record status:

Allele description [Variation Report for NM_000257.4(MYH7):c.728G>A (p.Arg243His)]

NM_000257.4(MYH7):c.728G>A (p.Arg243His)

MYH7:myosin heavy chain 7 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Genomic location:
Preferred name:
NM_000257.4(MYH7):c.728G>A (p.Arg243His)
Other names:
p.R243H:CGC>CAC; NM_000257.4(MYH7):c.728G>A
  • NC_000014.9:g.23431589C>T
  • NG_007884.1:g.9073G>A
  • NM_000257.4:c.728G>AMANE SELECT
  • NP_000248.2:p.Arg243His
  • LRG_384t1:c.728G>A
  • LRG_384:g.9073G>A
  • LRG_384p1:p.Arg243His
  • NC_000014.8:g.23900798C>T
  • NM_000257.2:c.728G>A
  • NM_000257.3:c.728G>A
  • P12883:p.Arg243His
Protein change:
R243H; ARG243HIS
UniProtKB: P12883#VAR_073876; OMIM: 160760.0040; dbSNP: rs267606910
NCBI 1000 Genomes Browser:
Molecular consequence:
  • NM_000257.4:c.728G>A - missense variant - [Sequence Ontology: SO:0001583]


Left ventricular noncompaction 5 (LVNC5)
MedGen: C3150690

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
SCV000035444OMIMno assertion criteria providedPathogenic
(Jun 3, 2008)
germlineliterature only

PubMed (3)
[See all records that cite these PMIDs]

Summary from all submissions

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



Gene mutations in apical hypertrophic cardiomyopathy.

Arad M, Penas-Lado M, Monserrat L, Maron BJ, Sherrid M, Ho CY, Barr S, Karim A, Olson TM, Kamisago M, Seidman JG, Seidman CE.

Circulation. 2005 Nov 1;112(18):2805-11.

PubMed [citation]

Isolated noncompaction of the left ventricular myocardium in the adult is an autosomal dominant disorder in the majority of patients.

Sasse-Klaassen S, Gerull B, Oechslin E, Jenni R, Thierfelder L.

Am J Med Genet A. 2003 Jun 1;119A(2):162-7.

PubMed [citation]
See all PubMed Citations (3)

Details of each submission

From OMIM, SCV000035444.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (3)


In a 40-year-old man with hypertrophic cardiomyopathy-1 (CMH1; 192600) who presented with presyncope and was found to have apical hypertrophy, Arad et al. (2005) identified heterozygosity for an arg243-to-his (R243H) substitution in the MYH7 gene.

In affected members of a 3-generation family segregating autosomal dominant left ventricular noncompaction but no other congenital heart anomalies (LVNC5; see 613426), previously studied by Sasse-Klaassen et al. (2003) as 'family INVM-107,' Klaassen et al. (2008) identified heterozygosity for an 814G-A transition in the MYH7 gene, resulting in the R243H substitution. Noncompaction in all 4 affected individuals involved the apex and mid-left ventricular wall, and the right ventricle was involved as well in 2 patients.

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

Last Updated: Sep 29, 2021

Support Center