ClinVar Genomic variation as it relates to human health
NM_000257.4(MYH7):c.2572C>T (p.Arg858Cys)
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
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NM_000257.4(MYH7):c.2572C>T (p.Arg858Cys)
Variation ID: 164324 Accession: VCV000164324.53
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 14q11.2 14: 23424876 (GRCh38) [ NCBI UCSC ] 14: 23894085 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
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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 Nov 9, 2015 Apr 20, 2024 Apr 2, 2024 - HGVS
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Nucleotide Protein Molecular
consequenceNM_000257.4:c.2572C>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000248.2:p.Arg858Cys missense NC_000014.9:g.23424876G>A NC_000014.8:g.23894085G>A NG_007884.1:g.15786C>T LRG_384:g.15786C>T LRG_384t1:c.2572C>T P12883:p.Arg858Cys - Protein change
- R858C
- Other names
- -
- Canonical SPDI
- NC_000014.9:23424875:G:A
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
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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.
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Allele frequency
Help
The frequency of the allele represented by this VCV record.
The Genome Aggregation Database (gnomAD), exomes 0.00001
Trans-Omics for Precision Medicine (TOPMed) 0.00003
The Genome Aggregation Database (gnomAD) 0.00003
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 | ||
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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. |
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MYH7 | No evidence available | No evidence available |
GRCh38 GRCh37 |
3578 | 4827 | |
LOC126861898 | - | - | - | GRCh38 | - | 367 |
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. |
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Pathogenic/Likely pathogenic (4) |
criteria provided, multiple submitters, no conflicts
|
Jun 1, 2023 | RCV000225738.26 | |
Likely pathogenic (3) |
criteria provided, multiple submitters, no conflicts
|
Aug 30, 2023 | RCV000201448.3 | |
Likely pathogenic (1) |
criteria provided, single submitter
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Oct 5, 2015 | RCV000415053.3 | |
Pathogenic/Likely pathogenic (4) |
criteria provided, multiple submitters, no conflicts
|
Apr 2, 2024 | RCV000457606.16 | |
Likely pathogenic (1) |
criteria provided, single submitter
|
Jan 1, 2016 | RCV001198295.3 | |
Pathogenic (2) |
criteria provided, multiple submitters, no conflicts
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Jul 7, 2023 | RCV001524491.6 | |
Likely pathogenic (1) |
criteria provided, single submitter
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Nov 17, 2022 | RCV002453490.3 | |
Likely pathogenic (1) |
criteria provided, single submitter
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Apr 14, 2022 | RCV002505152.2 | |
Likely pathogenic (1) |
criteria provided, single submitter
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Jun 14, 2023 | RCV003448270.1 | |
Likely pathogenic (1) |
criteria provided, single submitter
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Aug 30, 2023 | RCV003333032.1 | |
Likely pathogenic (1) |
criteria provided, single submitter
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Aug 30, 2023 | RCV003333030.1 | |
Likely pathogenic (1) |
criteria provided, single submitter
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Aug 30, 2023 | RCV003333029.1 | |
Likely pathogenic (1) |
criteria provided, single submitter
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Aug 30, 2023 | RCV003333031.1 | |
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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. |
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Likely pathogenic
(-)
|
criteria provided, single submitter
Method: clinical testing
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Hypertrophic cardiomyopathy 1
(Autosomal dominant inheritance)
Affected status: yes
Allele origin:
germline
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Laboratory of Genetics and Molecular Cardiology, University of São Paulo
Study: Sarcomeric Human Cardiomyopathy Registry (ShaRe)
Accession: SCV000256128.1 First in ClinVar: Nov 09, 2015 Last updated: Nov 09, 2015 |
Number of individuals with the variant: 1
|
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Likely pathogenic
(Oct 05, 2015)
|
criteria provided, single submitter
Method: clinical testing
|
Myopathy
Affected status: yes
Allele origin:
unknown
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
Accession: SCV000492716.1
First in ClinVar: Jan 13, 2017 Last updated: Jan 13, 2017 |
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Likely pathogenic
(Aug 01, 2017)
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criteria provided, single submitter
Method: clinical testing
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Hypertrophic cardiomyopathy 1
Affected status: unknown
Allele origin:
germline
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Phosphorus, Inc.
Accession: SCV000679785.1
First in ClinVar: Nov 09, 2015 Last updated: Nov 09, 2015 |
Number of individuals with the variant: 1
|
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Likely pathogenic
(Oct 31, 2018)
|
criteria provided, single submitter
Method: clinical testing
|
Hypertrophic cardiomyopathy
Affected status: yes
Allele origin:
germline
|
Center for Human Genetics, University of Leuven
Accession: SCV000886788.1
First in ClinVar: May 02, 2019 Last updated: May 02, 2019 |
|
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Likely pathogenic
(Jan 01, 2016)
|
criteria provided, single submitter
Method: clinical testing
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Congenital myopathy 4A, autosomal dominant
Affected status: yes
Allele origin:
unknown
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Centre for Mendelian Genomics, University Medical Centre Ljubljana
Accession: SCV001369179.2
First in ClinVar: Jul 04, 2020 Last updated: Jul 04, 2020 |
Comment:
This variant was classified as: Likely pathogenic.
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Likely pathogenic
(Apr 14, 2022)
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criteria provided, single submitter
Method: clinical testing
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MYH7-related skeletal myopathy
Myosin storage myopathy Hypertrophic cardiomyopathy 1 Myopathy, myosin storage, autosomal recessive Congenital myopathy 4A, autosomal dominant Myosin storage myopathy Dilated cardiomyopathy 1S
Affected status: unknown
Allele origin:
unknown
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Fulgent Genetics, Fulgent Genetics
Accession: SCV002814102.1
First in ClinVar: Dec 31, 2022 Last updated: Dec 31, 2022 |
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Pathogenic
(Sep 20, 2021)
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criteria provided, single submitter
Method: clinical testing
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Cardiomyopathy
Affected status: unknown
Allele origin:
germline
|
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario
Accession: SCV003838755.1
First in ClinVar: Mar 11, 2023 Last updated: Mar 11, 2023 |
|
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Likely pathogenic
(Nov 17, 2022)
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criteria provided, single submitter
Method: clinical testing
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Cardiovascular phenotype
Affected status: unknown
Allele origin:
germline
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Ambry Genetics
Accession: SCV002738910.2
First in ClinVar: Nov 29, 2022 Last updated: Apr 15, 2023 |
Comment:
The p.R858C variant (also known as c.2572C>T), located in coding exon 20 of the MYH7 gene, results from a C to T substitution at nucleotide … (more)
The p.R858C variant (also known as c.2572C>T), located in coding exon 20 of the MYH7 gene, results from a C to T substitution at nucleotide position 2572. The arginine at codon 858 is replaced by cysteine, an amino acid with highly dissimilar properties. This alteration is located in the myosin head domain, which contains a statistically significant clustering of pathogenic missense variants (Homburger JR et al. Proc Natl Acad Sci U S A, 2016 06;113:6701-6; Walsh R et al. Genet Med, 2017 02;19:192-203; Ambry internal data). This alteration has been reported in individuals with hypertrophic cardiomyopathy (Funada A et al. Circ. J., 2010 Nov;74:2674-80; Marsiglia JD et al. Am. Heart J., 2013 Oct;166:775-82; Berge KE et al. Clin. Genet., 2014 Oct;86:355-60; Chiou KR et al. J Cardiol, 2015 Mar;65:250-6; Homburger JR et al. Proc. Natl. Acad. Sci. U.S.A., 2016 06;113:6701-6; Walsh R et al. Genet. Med., 2017 Feb;19:192-203; Zhao Y et al. Int. J. Mol. Med., 2017 Jul;40:121-129). This alteration was also described to segregate with the disease in one family (Chiou KR et al. J Cardiol, 2015 Mar;65:250-6). This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Based on the majority of available evidence to date, this variant is likely to be pathogenic. (less)
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Likely pathogenic
(Jun 01, 2023)
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criteria provided, single submitter
Method: clinical testing
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Not Provided
Affected status: yes
Allele origin:
germline
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GeneDx
Accession: SCV000208471.13
First in ClinVar: Feb 24, 2015 Last updated: Jun 17, 2023 |
Comment:
Not observed at significant frequency in large population cohorts (gnomAD); Reported in ClinVar as likely pathogenic (ClinVar Variant ID# 164324; ClinVar); In silico analysis supports … (more)
Not observed at significant frequency in large population cohorts (gnomAD); Reported in ClinVar as likely pathogenic (ClinVar Variant ID# 164324; ClinVar); 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: 24111713, 25086479, 15358028, 29169752, 34542152, 25125180, 26187847, 25937619, 24093860, 27532257, 22958901, 27247418, 19149795, 16938236, 28498465, 24621997, 28971120, 20975235, 31513939, 31589614, 32894683, 33087929, 35653365, 29300372) (less)
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Likely pathogenic
(Aug 30, 2023)
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criteria provided, single submitter
Method: clinical testing
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Myosin storage myopathy
Affected status: unknown
Allele origin:
unknown
|
Baylor Genetics
Accession: SCV004041297.1
First in ClinVar: Oct 07, 2023 Last updated: Oct 07, 2023 |
|
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Likely pathogenic
(Aug 30, 2023)
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criteria provided, single submitter
Method: clinical testing
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Hypertrophic cardiomyopathy 1
Affected status: unknown
Allele origin:
unknown
|
Baylor Genetics
Accession: SCV004041370.1
First in ClinVar: Oct 07, 2023 Last updated: Oct 07, 2023 |
|
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Likely pathogenic
(Aug 30, 2023)
|
criteria provided, single submitter
Method: clinical testing
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Myopathy, myosin storage, autosomal recessive
Affected status: unknown
Allele origin:
unknown
|
Baylor Genetics
Accession: SCV004041405.1
First in ClinVar: Oct 07, 2023 Last updated: Oct 07, 2023 |
|
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Likely pathogenic
(Aug 30, 2023)
|
criteria provided, single submitter
Method: clinical testing
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Dilated cardiomyopathy 1S
Affected status: unknown
Allele origin:
unknown
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Baylor Genetics
Accession: SCV004041371.1
First in ClinVar: Oct 07, 2023 Last updated: Oct 07, 2023 |
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Likely pathogenic
(Aug 30, 2023)
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criteria provided, single submitter
Method: clinical testing
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MYH7-related skeletal myopathy
Affected status: unknown
Allele origin:
unknown
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Baylor Genetics
Accession: SCV004041498.1
First in ClinVar: Oct 07, 2023 Last updated: Oct 07, 2023 |
|
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Likely pathogenic
(Sep 05, 2021)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
germline
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Revvity Omics, Revvity
Accession: SCV002017850.3
First in ClinVar: Nov 29, 2021 Last updated: Feb 04, 2024 |
|
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Pathogenic
(Dec 08, 2023)
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criteria provided, single submitter
Method: clinical testing
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Hypertrophic cardiomyopathy
Affected status: unknown
Allele origin:
germline
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Invitae
Accession: SCV000546275.9
First in ClinVar: Apr 17, 2017 Last updated: Feb 14, 2024 |
Comment:
This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 858 of the MYH7 protein … (more)
This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 858 of the MYH7 protein (p.Arg858Cys). This variant is present in population databases (rs2754158, gnomAD 0.007%). This missense change has been observed in individual(s) with hypertrophic cardiomyopathy (PMID: 15358028, 24093860, 28498465). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 164324). 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%. This variant is found within a region of MYH7 between codons 181 and 937 that contains the majority of the myosin head domain. Missense variants in this region have been shown to be significantly overrepresented in individuals with hypertrophic cardiomyopathy (PMID: 27532257). For these reasons, this variant has been classified as Pathogenic. (less)
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Pathogenic
(Jul 07, 2023)
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criteria provided, single submitter
Method: clinical testing
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Cardiomyopathy
Affected status: unknown
Allele origin:
germline
|
Color Diagnostics, LLC DBA Color Health
Accession: SCV001734359.2
First in ClinVar: Jun 19, 2021 Last updated: Feb 14, 2024 |
Comment:
This missense variant replaces arginine with cysteine at codon 858 in the neck and hinge (S2) domain of the MYH7 protein. Computational prediction is inconclusive … (more)
This missense variant replaces arginine with cysteine at codon 858 in the neck and hinge (S2) domain of the MYH7 protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has been reported in over 10 unrelated individuals affected with hypertrophic cardiomyopathy (PMID: 15358028, 16938236, 19149795, 20975235, 24793961, 25086479, 25937619, 27247418, 27532257, 28498465, 28971120, 31513939, 33495597) and has been shown to segregate with disease in a family study (PMID: 25086479). A different missense variant occurring at the same codon, p.Arg858His (ClinVar variation ID: 177696), is known to be pathogenic, indicating that arginine at this position is important for MYH7 protein function. This variant has been identified in 3/251442 chromosomes in the general population by the Genome Aggregation Database (gnomAD). Based on the available evidence, this variant is classified as Pathogenic. (less)
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Pathogenic
(Dec 18, 2023)
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criteria provided, single submitter
Method: clinical testing
|
Hypertrophic cardiomyopathy
(Autosomal dominant inheritance)
Affected status: unknown
Allele origin:
germline
|
All of Us Research Program, National Institutes of Health
Accession: SCV004844786.1
First in ClinVar: Apr 20, 2024 Last updated: Apr 20, 2024 |
Comment:
This missense variant replaces arginine with cysteine at codon 858 in the neck and hinge (S2) domain of the MYH7 protein. Computational prediction is inconclusive … (more)
This missense variant replaces arginine with cysteine at codon 858 in the neck and hinge (S2) domain of the MYH7 protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has been reported in over 10 unrelated individuals affected with hypertrophic cardiomyopathy (PMID: 15358028, 16938236, 19149795, 20975235, 24793961, 25086479, 25937619, 27247418, 27532257, 28498465, 28971120, 31513939, 33495597) and has been shown to segregate with disease in a family study (PMID: 25086479). A different missense variant occurring at the same codon, p.Arg858His (ClinVar variation ID: 177696), is known to be pathogenic, indicating that arginine at this position is important for MYH7 protein function. This variant has been identified in 3/251442 chromosomes in the general population by the Genome Aggregation Database (gnomAD). Based on the available evidence, this variant is classified as Pathogenic. (less)
Number of individuals with the variant: 4
|
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Pathogenic
(Apr 02, 2024)
|
criteria provided, single submitter
Method: clinical testing
|
Hypertrophic cardiomyopathy
Affected status: unknown
Allele origin:
germline
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
Accession: SCV000199179.6
First in ClinVar: Feb 02, 2015 Last updated: Apr 20, 2024 |
Comment:
The p.Arg858Cys variant in MYH7 has been reported in at least 15 heterozygous individuals with hypertrophic cardiomyopathy (HCM; Ven Driest 2004 PMID: 15358028, Mora 2006 … (more)
The p.Arg858Cys variant in MYH7 has been reported in at least 15 heterozygous individuals with hypertrophic cardiomyopathy (HCM; Ven Driest 2004 PMID: 15358028, Mora 2006 PMID: 16938236, Uchiyama 2009 PMID: 19149795, Funada 2010 PMID: 20975235, Bick 2012 PMID: 22958901, Marsiglia 2013 PMID: 24093860, Berge 2014 PMID: 24111713, Bos 2014 PMID: 24793961, Li 2015 PMID: 26187847, Chiou 2015 PMID: 25086479, Walsh 2017 PMID: 27532257, Robyns 2020 PMID: 31513939) and reportedly occurred as a de novo variant in 1 individual with HCM (Zhao 2017 PMID: 28498465). It has also segregated with disease in at least 6 affected relatives from 1 family (Chiou 2015 PMID: 25086479). This variant has also been reported by other clinical laboratories in ClinVar (Variation ID 164324) and in 0.003% (2/60008) of Admixed American chromosomes by gnomAD (http://gnomad.broadinstitute.org, v.4.0.0). Computational prediction tools and conservation analyses do not provide strong support for or against an impact to the protein. This variant lies in the head region of the protein and missense variants in this region are statistically more likely to be disease-associated (Walsh 2016 PMID: 27532257). In summary, this variant meets criteria to be classified as pathogenic for autosomal dominant HCM. ACMG/AMP Criteria applied: PS4, PP1_Moderate, PM1, PM2_supporting, PM6_supporting. (less)
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Likely pathogenic
(Sep 30, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
Not provided
Affected status: yes
Allele origin:
germline
|
AiLife Diagnostics, AiLife Diagnostics
Accession: SCV002502757.1
First in ClinVar: Apr 23, 2022 Last updated: Apr 23, 2022 |
Number of individuals with the variant: 1
Secondary finding: no
|
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Likely pathogenic
(Jun 14, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Dilated cardiomyopathy 1S
Hypertrophic cardiomyopathy 1
Explanation for multiple conditions: Uncertain.
The variant was classified for several related diseases, possibly a spectrum of disease; the variant may be associated with one or more the diseases.
Affected status: yes
Allele origin:
germline
|
New York Genome Center
Accession: SCV004176199.1
First in ClinVar: Dec 17, 2023 Last updated: Dec 17, 2023 |
Comment:
The c.2572C>T p.(Arg858Cys) variant in MYH7 has previously been reported in multiple individuals with hypertrophic cardiomyopathy in heterozygous state (PMID: 15358028, 16938236, 19149795, 24093860, 20975235, … (more)
The c.2572C>T p.(Arg858Cys) variant in MYH7 has previously been reported in multiple individuals with hypertrophic cardiomyopathy in heterozygous state (PMID: 15358028, 16938236, 19149795, 24093860, 20975235, 28498465, 34542152, 35653365), and has been deposited in ClinVar database as Pathogenic/Likely Pathogenic by multiple independent laboratories [ClinVar ID: 164324]. The c.2572C>T variant is observed in 14 alleles (~0.0023% minor allele frequency with 0 homozygotes) in population databases (gnomAD v2.1.1 and v3.1.2, TOPMed Freeze 8), suggesting it is not a common benign variant in the populations represented in those databases. The c.2572C>T variant in MYH7 is located in exon 22 of this 40-exon gene and predicted to replace a moderately conserved arginine amino acid with cysteine at position 858 in the coiled coil domain (839-1935aa; Uniprot ID: P12883) of the encoded protein. In silico predictions are favor of damaging effect for the p.(Arg858Cys) variant [REVEL = 0.631]; however, there are no functional studies to support or refute these predictions. Another missense substitution affecting the same protein residue c.2573G>C, p.(Arg858Pro) has been reported in the literature [PMID: 27247418, 27532257] and in ClinVar [ClinVar ID: 520277] in individuals with hypertrophic cardiomyopathy. Based on available evidence this c.2572C>T, p.(Arg858Cys) variant identified in MYH7 is classified as Likely Pathogenic (less)
Clinical Features:
Cardiomyopathy (present)
Secondary finding: no
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Pathogenic
(Jun 01, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: yes
Allele origin:
germline
|
CeGaT Center for Human Genetics Tuebingen
Accession: SCV001149186.21
First in ClinVar: Feb 03, 2020 Last updated: Apr 15, 2024 |
Number of individuals with the variant: 3
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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 |
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Molecular genetics in 4408 cardiomyopathy probands and 3008 relatives in Norway: 17 years of genetic testing in a national laboratory. | Stava TT | European journal of preventive cardiology | 2022 | PMID: 35653365 |
A genome-first approach to rare variants in hypertrophic cardiomyopathy genes MYBPC3 and MYH7 in a medical biobank. | Park J | Human molecular genetics | 2022 | PMID: 34542152 |
Common genetic variants and modifiable risk factors underpin hypertrophic cardiomyopathy susceptibility and expressivity. | Harper AR | Nature genetics | 2021 | PMID: 33495597 |
Clinical Utility of a Phenotype-Enhanced MYH7-Specific Variant Classification Framework in Hypertrophic Cardiomyopathy Genetic Testing. | Mattivi CL | Circulation. Genomic and precision medicine | 2020 | PMID: 32894683 |
Clinical and ECG variables to predict the outcome of genetic testing in hypertrophic cardiomyopathy. | Robyns T | European journal of medical genetics | 2020 | PMID: 31513939 |
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes. | Capalbo A | PLoS genetics | 2019 | PMID: 31589614 |
Data on exercise and cardiac imaging in a patient cohort with hypertrophic cardiomyopathy. | Dejgaard LA | Data in brief | 2017 | PMID: 28971120 |
Identification of a novel hypertrophic cardiomyopathy-associated mutation using targeted next-generation sequencing. | Zhao Y | International journal of molecular medicine | 2017 | PMID: 28498465 |
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 |
Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac death. | Li MH | Human genomics | 2015 | PMID: 26187847 |
A Variant Detection Pipeline for Inherited Cardiomyopathy-Associated Genes Using Next-Generation Sequencing. | Oliveira TG | The Journal of molecular diagnostics : JMD | 2015 | PMID: 25937619 |
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. | Richards S | Genetics in medicine : official journal of the American College of Medical Genetics | 2015 | PMID: 25741868 |
Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity. | Alfares AA | Genetics in medicine : official journal of the American College of Medical Genetics | 2015 | PMID: 25611685 |
Detection of mutations in symptomatic patients with hypertrophic cardiomyopathy in Taiwan. | Chiou KR | Journal of cardiology | 2015 | PMID: 25086479 |
Characterization of a phenotype-based genetic test prediction score for unrelated patients with hypertrophic cardiomyopathy. | Bos JM | Mayo Clinic proceedings | 2014 | PMID: 24793961 |
Genetics of hypertrophic cardiomyopathy in Norway. | Berge KE | Clinical genetics | 2014 | PMID: 24111713 |
Screening of MYH7, MYBPC3, and TNNT2 genes in Brazilian patients with hypertrophic cardiomyopathy. | Marsiglia JD | American heart journal | 2013 | PMID: 24093860 |
A systematic approach to assessing the clinical significance of genetic variants. | Duzkale H | Clinical genetics | 2013 | PMID: 24033266 |
Burden of rare sarcomere gene variants in the Framingham and Jackson Heart Study cohorts. | Bick AG | American journal of human genetics | 2012 | PMID: 22958901 |
Impact of renin-angiotensin system polymorphisms on development of systolic dysfunction in hypertrophic cardiomyopathy. Evidence from a study of genotyped patients. | Funada A | Circulation journal : official journal of the Japanese Circulation Society | 2010 | PMID: 20975235 |
Impact of QT variables on clinical outcome of genotyped hypertrophic cardiomyopathy. | Uchiyama K | Annals of noninvasive electrocardiology : the official journal of the International Society for Holter and Noninvasive Electrocardiology, Inc | 2009 | PMID: 19149795 |
[Hypertrophic cardiomyopathy: infrequent mutation of the cardiac beta-myosin heavy-chain gene]. | Mora R | Revista espanola de cardiologia | 2006 | PMID: 16938236 |
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 |
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Text-mined citations for rs2754158 ...
HelpRecord last updated Apr 20, 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.