NM_000257.4(MYH7):c.728G>A (p.Arg243His) AND Familial hypertrophic cardiomyopathy 1

Clinical significance:Likely pathogenic (Last evaluated: Aug 1, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000015186.27

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

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

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.728G>A (p.Arg243His)
Other names:
p.R243H:CGC>CAC; NM_000257.4(MYH7):c.728G>A
HGVS:
  • 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
Links:
UniProtKB: P12883#VAR_073876; OMIM: 160760.0040; dbSNP: rs267606910
NCBI 1000 Genomes Browser:
rs267606910
Molecular consequence:
  • NM_000257.4:c.728G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Familial hypertrophic cardiomyopathy 1 (CMH1)
Synonyms:
Hypertrophic cardiomyopathy 1; MYH7-Related Familial Hypertrophic Cardiomyopathy
Identifiers:
MONDO: MONDO:0008647; MedGen: C3495498; OMIM: 192600

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000035443OMIMno assertion criteria providedPathogenic
(Jun 3, 2008)
germlineliterature only

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

SCV000679796Phosphorus, Inc.criteria provided, single submitter
Likely pathogenic
(Aug 1, 2017)
germlineclinical testing

PubMed (8)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

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]
PMID:
12749056

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]
PMID:
16267253
See all PubMed Citations (8)

Details of each submission

From OMIM, SCV000035443.2

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

Description

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.

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

From Phosphorus, Inc., SCV000679796.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (8)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2021

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