ClinVar Genomic variation as it relates to human health
NM_000257.4(MYH7):c.4066G>A (p.Glu1356Lys)
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_000257.4(MYH7):c.4066G>A (p.Glu1356Lys)
Variation ID: 164294 Accession: VCV000164294.28
- Type and length
-
single nucleotide variant, 1 bp
- Location
-
Cytogenetic: 14q11.2 14: 23418313 (GRCh38) [ NCBI UCSC ] 14: 23887522 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
-
First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline May 29, 2016 Feb 14, 2024 Nov 30, 2021 - HGVS
-
Nucleotide Protein Molecular
consequenceNM_000257.4:c.4066G>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000248.2:p.Glu1356Lys missense NC_000014.9:g.23418313C>T NC_000014.8:g.23887522C>T NG_007884.1:g.22349G>A LRG_384:g.22349G>A LRG_384t1:c.4066G>A P12883:p.Glu1356Lys - Protein change
- E1356K
- Other names
- NM_000257.3(MYH7):c.4066G>A
- NM_000257.4(MYH7):c.4066G>A
- Canonical SPDI
- NC_000014.9:23418312:C:T
-
Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
-
-
Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
-
-
Allele frequency
Help
The frequency of the allele represented by this VCV record.
The Genome Aggregation Database (gnomAD) 0.00001
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
---|---|---|---|---|---|---|
HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
|||
MYH7 | No evidence available | No evidence available |
GRCh38 GRCh37 |
3417 | 4600 |
Conditions - Germline
Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
---|---|---|---|---|
Uncertain significance (1) |
no assertion criteria provided
|
Mar 7, 2014 | RCV000151243.5 | |
Pathogenic (3) |
criteria provided, multiple submitters, no conflicts
|
Jan 17, 2023 | RCV000223815.8 | |
Pathogenic (2) |
reviewed by expert panel
|
Nov 30, 2021 | RCV000461192.11 | |
Pathogenic (1) |
no assertion criteria provided
|
Dec 5, 2019 | RCV000584808.2 | |
Pathogenic (1) |
criteria provided, single submitter
|
May 5, 2023 | RCV000619582.4 | |
Likely pathogenic (1) |
criteria provided, single submitter
|
Mar 22, 2019 | RCV000772181.4 | |
Pathogenic (1) |
criteria provided, single submitter
|
Jan 3, 2022 | RCV001808414.1 |
Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
|
---|---|---|---|---|---|
Pathogenic
(Nov 30, 2021)
|
reviewed by expert panel
Method: curation
|
Hypertrophic cardiomyopathy
(Autosomal dominant inheritance)
Affected status: unknown
Allele origin:
germline
|
ClinGen Cardiomyopathy Variant Curation Expert Panel
Accession: SCV000564448.5
First in ClinVar: Jan 26, 2017 Last updated: Dec 25, 2021 |
Comment:
The NM_000257.4(MYH7):c.4066G>A (p.Glu1356Lys) variant has been identified in at least 40 individuals with HCM, including 1 with features of RCM (PS4; Brito 2005 PMID: 16335287; … (more)
The NM_000257.4(MYH7):c.4066G>A (p.Glu1356Lys) variant has been identified in at least 40 individuals with HCM, including 1 with features of RCM (PS4; Brito 2005 PMID: 16335287; Van Driest 2004 PMID: 15358028; Perrot 2005 PMID: 15856146; Theis 2009 PMID: 19808356; Brito 2012 PMID: 22857948; Zou 2013 PMID: 23283745; Lopes 2013 PMID: 23396983; Núñez 2013 PMID: 23782526; Captur 2014 PMID: 24704860; Homburger 2016 PMID: 27247418; Walsh 2017 PMID: 27532257; Mademont-Soler 2017 PMID: 28771489; Lu 2018 PMID: 30165862; Ambry pers. comm.; GeneDx pers. comm.; Invitae pers. comm.; LMM pers. comm.; OMGL pers. comm.). This variant segregates with HCM in at least 10 relatives from 5 families (PP1_Strong; LMM pers. comm.; OMGL pers. comm.; Stanford Inherited Heart Center pers. comm.). This variant was also reported to segregate with disease in a family with HCM, although details were not provided (Brito 2012 PMID: 22857948). This variant was absent from large population studies (PM2; gnomAD v2.1.1, http://gnomad.broadinstitute.org). In vitro functional studies provide some evidence that this variant alters protein function; however, this data is currently insufficient to establish functional impact and apply PS3 (Armel 2010 PMID: 19913502; Wolny 2013 PMID: 24047955). Computational prediction tools and conservation analysis suggest that this variant may impact the protein (PP3). In summary, this variant meets criteria to be classified as pathogenic for hypertrophic cardiomyopathy in an autosomal dominant manner. MYH7-specific ACMG/AMP criteria applied (Kelly 2018 PMID:29300372): PS4, PP1_Strong, PM2, PP3. (less)
|
|
Pathogenic
(Jan 17, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Not Provided
Affected status: yes
Allele origin:
germline
|
GeneDx
Accession: SCV000208565.6
First in ClinVar: Feb 24, 2015 Last updated: Nov 11, 2023 |
Comment:
In vivo studies suggested this variant may lead to reduced sarcomere incorporation of myosin, but adverse effects on muscle contraction were not observed (Wolny et … (more)
In vivo studies suggested this variant may lead to reduced sarcomere incorporation of myosin, but adverse effects on muscle contraction were not observed (Wolny et al., 2013); In vitro functional analysis demonstrated decreased thermal stability and decreased ability to form filaments, though the filaments that did form were indistinguishable from wild-type and contraction was not significantly affected (Armel et al., 2010); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 25961035, 15856146, 15358028, 23782526, 32894683, 28687478, 25125180, 23396983, 25649125, 26688388, 19808356, 23074333, 22857948, 24704860, 27532257, 27247418, 29300372, 23283745, 20800588, 25351510, 28408708, 28771489, 30165862, 31737537, 31199839, 32344918, 16335287, 34352619, 34428338, 35050212, 33658040, 32686758, 28615295, 33407484, 30297972, 34542152, 36291626, 19913502, 24047955) (less)
|
|
Pathogenic
(Apr 25, 2018)
|
criteria provided, single submitter
Method: clinical testing
|
Not provided
Affected status: yes
Allele origin:
germline
|
Blueprint Genetics
Accession: SCV000927656.1
First in ClinVar: Jul 31, 2019 Last updated: Jul 31, 2019 |
|
|
Likely pathogenic
(Mar 22, 2019)
|
criteria provided, single submitter
Method: clinical testing
|
Cardiomyopathy
Affected status: unknown
Allele origin:
germline
|
Color Diagnostics, LLC DBA Color Health
Accession: SCV000905298.3
First in ClinVar: May 20, 2019 Last updated: Jan 15, 2022 |
Comment:
This missense variant is located in the LMM domain of the MYH7 protein, C-terminal tail region that forms the thick filament backbone and interacts with … (more)
This missense variant is located in the LMM domain of the MYH7 protein, C-terminal tail region that forms the thick filament backbone and interacts with other proteins. Computational prediction tools and conservation analyses suggest that this variant may have deleterious impact on the protein function. Computational splicing tools suggest that this variant may not impact RNA splicing. Experimental functional studies have suggested that this variant may thermodynamically destabilize the protein (PMID: 19913502) and reduce incorporation of the mutant protein into the sarcomeres (PMID: 24047955). However, the variant did not significantly affected muscle contraction (PMID: 24047955). This variant has been reported in multiple individuals affected with hypertrophic cardiomyopathy (PMID: 28771489, 23283745, 22857948, 20800588, 19808356, 15856146, 15358028) and reported to segregate with disease in a family although detailed data are not available (PMID: 22857948). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Based on available evidence, this variant is classified as Likely Pathogenic. (less)
|
|
Pathogenic
(May 05, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Cardiovascular phenotype
Affected status: unknown
Allele origin:
germline
|
Ambry Genetics
Accession: SCV000740076.5
First in ClinVar: Apr 14, 2018 Last updated: Jul 08, 2023 |
Comment:
The p.E1356K pathogenic mutation (also known as c.4066G>A), located in coding exon 28 of the MYH7 gene, results from a G to A substitution at … (more)
The p.E1356K pathogenic mutation (also known as c.4066G>A), located in coding exon 28 of the MYH7 gene, results from a G to A substitution at nucleotide position 4066. The glutamic acid at codon 1356 is replaced by lysine, an amino acid with similar properties. This variant has been reported in several patients with hypertrophic cardiomyopathy (HCM) and has been reported to segregate with disease in several families (Van Driest SL et al. J Am Coll Cardiol. 2004;44:602-10; Perrot A et al. J Mol Med. 2005;83:468-77; Millat G et al. Clin Chim Acta. 2010;411:1983-91; Zou Y et al. Mol Biol Rep. 2013;40:3969-76; Homburger JR et al. Proc Natl Acad Sci U.S.A. 2016;113:6701-6; Walsh R et al. Genet. Med., 2017 Feb;19:192-203; LMM pers. comm.; OMGL pers. comm.). In functional in vitro and in vivo analyses, this variant has been suggested to adversely affect thick filament assembly in the sarcomere; however, the clinical impact of these findings has not been determined (Armel TZ et al. Biochem Biophys Res Commun. 2010;391:352-6; Wolny M et al. J Biol Chem. 2013;288:31952-62). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the supporting evidence, this alteration is interpreted as a disease-causing mutation. (less)
|
|
Pathogenic
(Jan 17, 2024)
|
criteria provided, single submitter
Method: clinical testing
|
Hypertrophic cardiomyopathy
Affected status: unknown
Allele origin:
germline
|
Invitae
Accession: SCV000546247.9
First in ClinVar: Apr 17, 2017 Last updated: Feb 14, 2024 |
Comment:
This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 1356 of the MYH7 protein … (more)
This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 1356 of the MYH7 protein (p.Glu1356Lys). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with hypertrophic cardiomyopathy (PMID: 15358028, 15856146, 19913502, 20800588, 22857948). ClinVar contains an entry for this variant (Variation ID: 164294). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt MYH7 protein function with a positive predictive value of 95%. Experimental studies have shown that this missense change affects MYH7 function (PMID: 24047955). For these reasons, this variant has been classified as Pathogenic. (less)
|
|
Pathogenic
(Jan 03, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
Hypertrophic cardiomyopathy 1
Affected status: yes
Allele origin:
germline
|
3billion
Accession: SCV002058906.1
First in ClinVar: Jan 15, 2022 Last updated: Jan 15, 2022 |
Comment:
The variant was co-segregated with Cardiomyopathy, hypertrophic,1 in multiple affected family members with additional meioses (PMID: 30297972, PP1_M). The variant has been observed in multiple … (more)
The variant was co-segregated with Cardiomyopathy, hypertrophic,1 in multiple affected family members with additional meioses (PMID: 30297972, PP1_M). The variant has been observed in multiple (>3) similarly affected unrelated individuals(PMID: 19808356, 23396983, 15856146, 27532257, 22857948, 24704860, 30297972, PS4_S). A different missense change at the same codon has been reported to be associated with MYH7 related disorder (PMID:NULL, PM5_P). In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.848, 3CNET: 0.909, PP3_P). It is not observed in the gnomAD v2.1.1 dataset (PM2_M). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline. (less)
Clinical Features:
Left ventricular hypertrophy (present)
|
|
Likely pathogenic
(Jan 18, 2012)
|
no assertion criteria provided
Method: clinical testing
|
Not provided
Affected status: not provided
Allele origin:
germline
|
Stanford Center for Inherited Cardiovascular Disease, Stanford University
Accession: SCV000280345.1
First in ClinVar: Jun 03, 2016 Last updated: Jun 03, 2016 |
Comment:
Note this variant was found in clinical genetic testing performed by one or more labs who may also submit to ClinVar. Thus any internal case … (more)
Note this variant was found in clinical genetic testing performed by one or more labs who may also submit to ClinVar. Thus any internal case data may overlap with the internal case data of other labs. The interpretation reviewed below is that of the Stanford Center for Inherited Cardiovascular Disease. p.Glu1356Lys (c. 4066G>A) in the MYH7 gene. We first reviewed this variant in June 2011, we reviewed it on 1/25/2012, adding additional control data. There was no new case data at that time. We last reviewed it on 4/17/13 adding additional control and case data. We are aware of a total of at least 4 presumably unrelated individuals who have this variant and have cardiomyopathy (not including this family). This variant has been reported in 4 unrelated individuals with HCM (Van Driest et al 2004, Millat et al 2010, Perrot et al 2005, Brito, 2011). Brito et al the variant segregated with disease, although specifics are not given. Theis et al (2009) also reported a case with this variant, however it may be the same case that was reported by Van Driest et al (2004). Moderate segregation data is available within our patient's family. This is a semi conservative amino acid change with a polar, negative glutamic acid replaced by a polar, positive lysine. Conservation analysis illustrates that glutamic acid is highly conserved across species at codon 1356 (Perrot et al 2005). There are no published disease associated variants within 10 codons upstream or downstream of this variant. Functional studies indicate that the presence of p.Glu1356Lys thermodynamically destabilizes the resulting myosin heavy chain protein and affecting its ability to form filaments and to function properly (Armel et al 2009). LMM informed me that a novel computational tool specific to sarcomere genes and based on PolyPhen predicts the variant to be pathogenic. This tool has a reported accuracy of 94% (Jordan 2011). In total, this variant was not observed in ~7,296 published controls, laboratory controls, and publicly available general population samples. Note that the family's ancestry is Asian, and few of these controls are matched to that ancestry. PGxHealth reports that they did not see this variant in 400 presumably healthy controls of mixed ethnic background. Perrot et al did not find the variant in 96 healthy volunteers of unspecified race. Brito did not find the variant in 100 additional samples of unspecified race. Van Driest et al did not identify the variant in 100 Caucasian and 100 African American controls. There is no variation at codon 1356 listed in dbSNP (as of 4/17/13). There are two entries for variant at codon 1356 listed in 1000 genomes, however one points to an HGMD entry and the other is rom COSMIC project (somatic mutations found in human cancers) (April 17th, 2013). There is also no variation at codon 1356 listed in the NHLBI Exome Sequencing Project dataset, which currently includes variant calls on ~6,500 Caucasian and African American individuals (as of 4/17/2013). (less)
Number of individuals with the variant: 6
|
|
Uncertain significance
(Mar 07, 2014)
|
no assertion criteria provided
Method: clinical testing
|
not specified
Affected status: not provided
Allele origin:
germline
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
Accession: SCV000199128.3
First in ClinVar: Feb 02, 2015 Last updated: May 29, 2016 |
Comment:
proposed classification - variant undergoing re-assessment, contact laboratory
Number of individuals with the variant: 2
|
|
Pathogenic
(Dec 05, 2019)
|
no assertion criteria provided
Method: research
|
Hypertrophic cardiomyopathy
Sudden unexplained death (Autosomal dominant inheritance)
Affected status: yes
Allele origin:
germline
|
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute
Accession: SCV000692494.2
First in ClinVar: Feb 25, 2018 Last updated: Aug 24, 2020 |
Comment:
This MYH7 Glu1356Lys variant has previously been identified in >15 unrelated HCM cases (see references, ClinVar submissions), including 1 de novo occurence (Brito et al., … (more)
This MYH7 Glu1356Lys variant has previously been identified in >15 unrelated HCM cases (see references, ClinVar submissions), including 1 de novo occurence (Brito et al., 2005). The variant has also been reported to segregate in 2 affected families (Standford University, Pers Comm.). A biochemical and biophysical assay has shown that the variant destabilises the protein and impairs filament formation (Armel TZ & Leinwand LA, 2010), whereas expression in adult rat cardiomyocytes suggests that this variant alters the alpha-helical structure, resulting in improper sarcomeric incorporation (Wolny M, et al., 2013). We identified this variant in 1 individual diagnosed with HCM (Ingles et al., 2017). MYH7 Glu1356Lys is present at a low frequency in the Genome Aggregation Database (http://gnomad.broadinstitute.org/). Computational tools SIFT, PolyPhen-2, PolyPhen-HCM and MutationTaster predict the variant to be deleterious. In summary, based on this information, we classify MYH7 Glu1356Lys as "pathogenic". (less)
|
Germline Functional Evidence
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Citations for germline classification of this variant
HelpTitle | Author | Journal | Year | Link |
---|---|---|---|---|
Genetic Dissection of Hypertrophic Cardiomyopathy with Myocardial RNA-Seq. | Gao J | International journal of molecular sciences | 2020 | PMID: 32344918 |
Defining genotype-phenotype relationships in patients with hypertrophic cardiomyopathy using cardiovascular magnetic resonance imaging. | Miller RJH | PloS one | 2019 | PMID: 31199839 |
Genotype and Lifetime Burden of Disease in Hypertrophic Cardiomyopathy: Insights from the Sarcomeric Human Cardiomyopathy Registry (SHaRe). | Ho CY | Circulation | 2018 | PMID: 30297972 |
Molecular analysis of inherited cardiomyopathy using next generation semiconductor sequencing technologies. | Lu C | Journal of translational medicine | 2018 | PMID: 30165862 |
Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel. | Kelly MA | Genetics in medicine : official journal of the American College of Medical Genetics | 2018 | PMID: 29300372 |
Factors Influencing the Phenotypic Expression of Hypertrophic Cardiomyopathy in Genetic Carriers. | Pérez-Sánchez I | Revista espanola de cardiologia (English ed.) | 2018 | PMID: 28687478 |
Burden of Recurrent and Ancestral Mutations in Families With Hypertrophic Cardiomyopathy. | Ross SB | Circulation. Cardiovascular genetics | 2017 | PMID: 28615295 |
Nonfamilial Hypertrophic Cardiomyopathy: Prevalence, Natural History, and Clinical Implications. | Ingles J | Circulation. Cardiovascular genetics | 2017 | PMID: 28408708 |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. | Walsh R | Genetics in medicine : official journal of the American College of Medical Genetics | 2017 | PMID: 27532257 |
Multidimensional structure-function relationships in human β-cardiac myosin from population-scale genetic variation. | Homburger JR | Proceedings of the National Academy of Sciences of the United States of America | 2016 | PMID: 27247418 |
A fast and cost-effective molecular diagnostic tool for genetic diseases involved in sudden cardiac death. | Chanavat V | Clinica chimica acta; international journal of clinical chemistry | 2016 | PMID: 26688388 |
Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy. | Lopes LR | Heart (British Cardiac Society) | 2015 | PMID: 25351510 |
Abnormal cardiac formation in hypertrophic cardiomyopathy: fractal analysis of trabeculae and preclinical gene expression. | Captur G | Circulation. Cardiovascular genetics | 2014 | PMID: 24704860 |
Cardiomyopathy mutations in the tail of β-cardiac myosin modify the coiled-coil structure and affect integration into thick filaments in muscle sarcomeres in adult cardiomyocytes. | Wolny M | The Journal of biological chemistry | 2013 | PMID: 24047955 |
Somatic MYH7, MYBPC3, TPM1, TNNT2 and TNNI3 mutations in sporadic hypertrophic cardiomyopathy. | Núñez L | Circulation journal : official journal of the Japanese Circulation Society | 2013 | PMID: 23782526 |
Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing. | Lopes LR | Journal of medical genetics | 2013 | PMID: 23396983 |
Multiple gene mutations, not the type of mutation, are the modifier of left ventricle hypertrophy in patients with hypertrophic cardiomyopathy. | Zou Y | Molecular biology reports | 2013 | PMID: 23283745 |
Cardiac structural and sarcomere genes associated with cardiomyopathy exhibit marked intolerance of genetic variation. | Pan S | Circulation. Cardiovascular genetics | 2012 | PMID: 23074333 |
Sarcomeric hypertrophic cardiomyopathy: genetic profile in a Portuguese population. | Brito D | Revista portuguesa de cardiologia : orgao oficial da Sociedade Portuguesa de Cardiologia = Portuguese journal of cardiology : an official journal of the Portuguese Society of Cardiology | 2012 | PMID: 22857948 |
Development of a high resolution melting method for the detection of genetic variations in hypertrophic cardiomyopathy. | Millat G | Clinica chimica acta; international journal of clinical chemistry | 2010 | PMID: 20800588 |
A mutation in the beta-myosin rod associated with hypertrophic cardiomyopathy has an unexpected molecular phenotype. | Armel TZ | Biochemical and biophysical research communications | 2010 | PMID: 19913502 |
Expression patterns of cardiac myofilament proteins: genomic and protein analysis of surgical myectomy tissue from patients with obstructive hypertrophic cardiomyopathy. | Theis JL | Circulation. Heart failure | 2009 | PMID: 19808356 |
Malignant mutations in hypertrophic cardiomyopathy: fact or fancy? | Brito D | Revista portuguesa de cardiologia : orgao oficial da Sociedade Portuguesa de Cardiologia = Portuguese journal of cardiology : an official journal of the Portuguese Society of Cardiology | 2005 | PMID: 16335287 |
Prevalence of cardiac beta-myosin heavy chain gene mutations in patients with hypertrophic cardiomyopathy. | Perrot A | Journal of molecular medicine (Berlin, Germany) | 2005 | PMID: 15856146 |
Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy. | Van Driest SL | Journal of the American College of Cardiology | 2004 | PMID: 15358028 |
https://erepo.clinicalgenome.org/evrepo/ui/interpretation/8112b9be-baa4-485d-a686-c223e112af4e | - | - | - | - |
click to load more click to collapse |
Text-mined citations for rs727503246 ...
HelpRecord last updated Feb 14, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.