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

Germline classification:: Likely pathogenic (2 submissions)
Last evaluated:: Aug 1, 2017
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: 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:

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000035443	OMIM	no assertion criteria provided	Pathogenic (Jun 3, 2008)	germline	literature only	PubMed (3) [See all records that cite these PMIDs] 16267253, 12749056, 18506004
SCV000679796	Phosphorus, Inc.	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Aug 1, 2017)	germline	clinical testing	PubMed (8) [See all records that cite these PMIDs] 12749056, 16267253, 18506004, 27066506, 27247418, 27532257, 27788187, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000035443

OMIM

no assertion criteria provided

Pathogenic
(Jun 3, 2008)

germline

literature only

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

SCV000679796

Phosphorus, Inc.

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Aug 1, 2017)

germline

clinical testing

PubMed (8)
[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	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only
not provided	germline	unknown	1	not provided	not provided	not provided	not provided	clinical testing

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

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature 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.

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

From Phosphorus, Inc., SCV000679796.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (8)

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

Last Updated: Feb 28, 2024

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