ClinVar Genomic variation as it relates to human health
NM_000257.4(MYH7):c.1491G>T (p.Glu497Asp)
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.1491G>T (p.Glu497Asp)
Variation ID: 14124 Accession: VCV000014124.30
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 14q11.2 14: 23428587 (GRCh38) [ NCBI UCSC ] 14: 23897796 (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 Jun 3, 2016 May 1, 2024 Jan 24, 2024 - HGVS
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Nucleotide Protein Molecular
consequenceNM_000257.4:c.1491G>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000248.2:p.Glu497Asp missense NC_000014.9:g.23428587C>A NC_000014.8:g.23897796C>A NG_007884.1:g.12075G>T LRG_384:g.12075G>T LRG_384t1:c.1491G>T P12883:p.Glu497Asp - Protein change
- E497D
- Other names
- p.E497D:GAG>GAT
- Canonical SPDI
- NC_000014.9:23428586:C: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
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The frequency of the allele represented by this VCV record.
The Genome Aggregation Database (gnomAD), exomes 0.00001
Trans-Omics for Precision Medicine (TOPMed) 0.00002
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
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Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
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HI score
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The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
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The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
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The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
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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 |
3598 | 4854 |
Conditions - Germline
Condition
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The condition for this variant-condition (RCV) record in ClinVar. |
Classification
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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
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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
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The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
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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 (1) |
no assertion criteria provided
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Nov 1, 2005 | RCV000015184.26 | |
Pathogenic/Likely pathogenic (3) |
criteria provided, multiple submitters, no conflicts
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Jan 24, 2024 | RCV000204929.14 | |
Likely pathogenic (4) |
criteria provided, multiple submitters, no conflicts
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Aug 25, 2022 | RCV000223873.13 | |
Likely pathogenic (1) |
criteria provided, single submitter
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Jan 1, 2022 | RCV002054442.1 | |
Pathogenic (1) |
criteria provided, single submitter
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May 3, 2022 | RCV000250089.5 | |
Likely pathogenic (2) |
criteria provided, multiple submitters, no conflicts
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Nov 13, 2023 | RCV001170512.4 |
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
(Mar 24, 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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Mayo Clinic Laboratories, Mayo Clinic
Accession: SCV001715070.1
First in ClinVar: Jun 15, 2021 Last updated: Jun 15, 2021 |
Comment:
PS4, PM2_supporting, PM1, PP3
Number of individuals with the variant: 1
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Likely pathogenic
(Aug 25, 2022)
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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: SCV000208744.9
First in ClinVar: Feb 24, 2015 Last updated: Mar 04, 2023 |
Comment:
Reported in individuals with sub-clinical cardiomyopathy (Captur et al., 2014; Ho et al., 2015); In silico analysis supports that this missense variant has a deleterious … (more)
Reported in individuals with sub-clinical cardiomyopathy (Captur et al., 2014; Ho et al., 2015); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Functional analysis of the Drosophila myosin heavy chain ortholog and molecular modeling of human beta-cardiac myosin suggest that charge reversal of E497 disrupts a salt bridge with R712, which may decrease ATPase activity and actin sliding velocity (Kronert et al., 2015); Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 18555187, 21958740, 24510615, 25543971, 25351510, 27247418, 27532257, 23549607, 26246073, 24793961, 16267253, 25558701, 28193612, 32894683, 29300372, 33605878, 34542152, 29121657, 26446785, 25228707, 31447099) (less)
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Likely pathogenic
(Feb 10, 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: SCV002017848.3
First in ClinVar: Nov 29, 2021 Last updated: Feb 04, 2024 |
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Likely pathogenic
(Feb 01, 2023)
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criteria provided, single submitter
Method: clinical testing
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Cardiomyopathy
Affected status: unknown
Allele origin:
germline
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CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario
Accession: SCV001333095.2
First in ClinVar: May 31, 2020 Last updated: Feb 04, 2024 |
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Likely pathogenic
(Nov 13, 2023)
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criteria provided, single submitter
Method: clinical testing
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Cardiomyopathy
Affected status: unknown
Allele origin:
germline
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Color Diagnostics, LLC DBA Color Health
Accession: SCV004356945.1
First in ClinVar: Feb 14, 2024 Last updated: Feb 14, 2024 |
Comment:
This missense variant replaces glutamic acid with aspartic acid at codon 497 in the myosin head/motor domain of the MYH7 protein. Computational prediction tools indicate … (more)
This missense variant replaces glutamic acid with aspartic acid at codon 497 in the myosin head/motor domain of the MYH7 protein. Computational prediction tools indicate that this variant has a deleterious impact on protein structure and function. This variant is found within a highly conserved region of the myosin head domain. Missense variants in this region have been shown to be significantly overrepresented in individuals with hypertrophic cardiomyopathy (PMID: 27532257). To our knowledge, functional studies have not been reported for this variant. This variant has been reported in over ten individuals affected with hypertrophic cardiomyopathy (PMID: 16267253, 21958740, 23549607, 24793961, 25351510, 25558701, 25611685, 27247418, 27532257, 29121657, 32894683, 33495597, 33764162, 34556856, 35470680). It has been shown that this variant segregates with disease in two affected individuals in one family (PMID: 16267253). This variant has been identified in 2/251488 chromosomes in the general population by the Genome Aggregation Database (gnomAD). Based on the available evidence, this variant is classified as Likely Pathogenic. (less)
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Pathogenic
(Jan 24, 2024)
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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: SCV000261320.10
First in ClinVar: Feb 02, 2016 Last updated: Feb 20, 2024 |
Comment:
This sequence change replaces glutamic acid, which is acidic and polar, with aspartic acid, which is acidic and polar, at codon 497 of the MYH7 … (more)
This sequence change replaces glutamic acid, which is acidic and polar, with aspartic acid, which is acidic and polar, at codon 497 of the MYH7 protein (p.Glu497Asp). This variant is present in population databases (rs267606911, gnomAD 0.02%). This missense change has been observed in individuals with hypertrophic cardiomyopathy (PMID: 16267253, 23549607, 24510615). ClinVar contains an entry for this variant (Variation ID: 14124). 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: 21310275, 26446785). For these reasons, this variant has been classified as Pathogenic. (less)
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Likely Pathogenic
(Dec 18, 2023)
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criteria provided, single submitter
Method: clinical testing
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Hypertrophic cardiomyopathy
(Autosomal dominant inheritance)
Affected status: unknown
Allele origin:
germline
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All of Us Research Program, National Institutes of Health
Accession: SCV004834053.1
First in ClinVar: Apr 20, 2024 Last updated: Apr 20, 2024
Comment:
This study involves interpretation of variants in research participants for the purpose of population health screening. Participant phenotype was not available at the time of … (more)
This study involves interpretation of variants in research participants for the purpose of population health screening. Participant phenotype was not available at the time of variant classification. Additional details can be found in publication PMID: 35346344, PMCID: PMC8962531 (less)
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Comment:
This missense variant replaces glutamic acid with aspartic acid at codon 497 in the myosin head/motor domain of the MYH7 protein. Computational prediction suggests that … (more)
This missense variant replaces glutamic acid with aspartic acid at codon 497 in the myosin head/motor domain of the MYH7 protein. Computational prediction suggests that this variant may have a deleterious impact on protein structure and function (internally defined REVEL score threshold >= 0.7, PMID: 27666373). This variant is found within a highly conserved region of the myosin head domain. Missense variants in this region have been shown to be significantly overrepresented in individuals with hypertrophic cardiomyopathy (PMID: 27532257). To our knowledge, functional studies have not been reported for this variant. This variant has been reported in over ten individuals affected with hypertrophic cardiomyopathy (PMID: 16267253, 21958740, 23549607, 24793961, 25351510, 25558701, 25611685, 27247418, 27532257, 29121657, 32894683, 33495597, 33764162, 34556856, 35470680). It has been shown that this variant segregates with disease in two affected individuals in one family (PMID: 16267253). This variant has been identified in 2/251488 chromosomes in the general population by the Genome Aggregation Database (gnomAD). Based on the available evidence, this variant is classified as Likely Pathogenic. (less)
Number of individuals with the variant: 2
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Likely Pathogenic
(Apr 05, 2019)
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criteria provided, single submitter
Method: clinical testing
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Hypertrophic cardiomyopathy
(Autosomal dominant inheritance)
Affected status: unknown
Allele origin:
germline
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Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
Accession: SCV000059378.7
First in ClinVar: May 03, 2013 Last updated: Apr 20, 2024 |
Comment:
The p.Glu497Asp variant in MYH7 has been reported in >=6 individuals with HCM and segregated with disease in 3 affected relatives from 2 families (Arad … (more)
The p.Glu497Asp variant in MYH7 has been reported in >=6 individuals with HCM and segregated with disease in 3 affected relatives from 2 families (Arad 2005, Ho 2013, Kapplinger 2014, Homburger 2016, LMM data). This variant has also been reported by other clinical laboratories in in ClinVar (Variation ID 14124) and has been identified in 2/9850 Ashkenazi Jewish chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org/; dbSNP rs267606911). Please note that for diseases with clinical variability or reduced penetrance, pathogenic variants may be present at a low frequency in the general population. Glutamic acid (Glu) at position 497 is highly conserved in mammals and across evolutionarily distant species and the change to aspartic acid (Asp) was predicted to be pathogenic using a computational tool clinically validated by our laboratory. This tool's pathogenic prediction is estimated to be correct 94% of the time (Jordan 2011). Of note, the p.Glu497Asp variant lies in the head region of the protein. Missense variants in this region have been reported and statistically indicated to be more likely to cause disease (Walsh 2016). In summary, although additional studies are required to fully establish its clinical significance, the p.Glu497Asp variant is likely pathogenic. The ACMG/AMP Criteria applied (Richards 2015): PS4_Moderate, PP1_Supporting, PP3, PM1. (less)
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Pathogenic
(May 03, 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: SCV000318467.7
First in ClinVar: Oct 02, 2016 Last updated: May 01, 2024 |
Comment:
The p.E497D pathogenic mutation (also known as c.1491G>T), located in coding exon 13 of the MYH7 gene, results from a G to T substitution at … (more)
The p.E497D pathogenic mutation (also known as c.1491G>T), located in coding exon 13 of the MYH7 gene, results from a G to T substitution at nucleotide position 1491. The glutamic acid at codon 497 is replaced by aspartic acid, an amino acid with highly similar 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 identified in numerous unrelated patients with hypertrophic cardiomyopathy and has been reported to co-segregate with disease in one small family (Arad M et al. Circulation. 2005;112(18):2805-11; Maron BJ et al. Am J Cardiol. 2011;108(12):1783-7; Arad M et al. Isr Med Assoc J. 2014;16(11):707-13; Kapplinger JD et al. J Cardiovasc Transl Res. 2014;7:347-61; Walsh R et al. Genet. Med. 2017;19:192-203; Mattivi CL et al. Circ Genom Precis Med. 2020 10;13(5):453-459; Puckelwartz MJ et a. J Am Heart Assoc. 2021 04;10(7):e019944; Ambry internal data). Functional studies of the orthologous residue in a transgenic Drosophila model, coupled with molecular modeling of human beta-cardiac myosin, demonstrated that E497 is involved in charge-dependent interactions between the relay helix and the converter domain. Disruption of this interaction by either charge reversal or introduction of a sterically smaller amino acid obviate this interaction, resulting in reduced ATPase activity and actin sliding velocity (Kronert WA et al. J. Biol. Chem., 2015 Dec;290:29270-80). 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)
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Likely pathogenic
(Jan 01, 2022)
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criteria provided, single submitter
Method: clinical testing
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Dilated cardiomyopathy 1S
Affected status: yes
Allele origin:
paternal
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Provincial Medical Genetics Program of British Columbia, University of British Columbia
Accession: SCV002320805.1
First in ClinVar: Apr 08, 2022 Last updated: Apr 08, 2022 |
Sex: female
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Pathogenic
(Nov 01, 2005)
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no assertion criteria provided
Method: literature only
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CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1
Affected status: not provided
Allele origin:
germline
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OMIM
Accession: SCV000035441.2
First in ClinVar: Apr 04, 2013 Last updated: Nov 10, 2016 |
Comment on evidence:
In affected members of a family with hypertrophic cardiomyopathy-1 (CMH1; 192600), Arad et al. (2005) identified heterozygosity for a glu497-to-asp (E497D) substitution in the MYH7 … (more)
In affected members of a family with hypertrophic cardiomyopathy-1 (CMH1; 192600), Arad et al. (2005) identified heterozygosity for a glu497-to-asp (E497D) substitution in the MYH7 gene. The proband had apical hypertrophy with associated electrocardiographic changes of left ventricular hypertrophy and deeply inverted precordial T waves, whereas a family member with concurrent coronary artery disease who carried the mutation had massive concentric hypertrophy with an interventricular septal thickness of 29 mm. (less)
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Likely pathogenic
(Oct 08, 2014)
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no assertion criteria provided
Method: clinical testing
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Not provided
Affected status: not provided
Allele origin:
germline
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Stanford Center for Inherited Cardiovascular Disease, Stanford University
Accession: SCV000280303.1
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.Glu497Asp (c.1419G>T) in MYH7. The results have been re-reviewed multiple times, most recently on August 27th, 2014. Additional data further supporting pathogenicity was available. Given the strong case data, the segregation data, and the absence in the general population we consider this variant likely disease causing. To the best of our knowledge this variant has been seen in at least 9, but possibly 14 unrelated families with HCM (not including this patient's family). There may be overlap between some of the published cases and cases in our center and in the genetic testing labs databases. We have seen this variant in three families with HCM in our center. The variant was reported in two members of one family with HCM studied by the Seidman group (Arad et al 2005).The proband in this family had apical hypertrophy while the other family member with this variant had massive concentric hypertrophy, syncope, and an ICD, along with comorbid coronary artery disease. For one of the family’s in our center, there is moderate co-segregation data to support the pathogenicity of this variant in that four individuals with HCM either tested positive for this variant or can be inferred to carry it based on pedigree analysis. However, we do not have confirmation of either phenotype or genotype on anyone in this family. The testing was reportedly done as part of a research endeavor. Of note, this case may overlap with the one reported by the Seidman group (Arad et al 2005). We also have segregation data in another family with both the proband and his affected mother having the variant. Per their ClinVar submission(SCV000059378), LMM has seen this variant in 5 probands with HCM. In one of those families another affected individual also had the variant. They classify this as likely pathogenic. Ackerman's group observed the variant in two unrelated patients with HCM in their Mayo cohort who underwent analysis in their local lab (Bos et al 2014). A polar, neutral Glutamate is substituted with a polar, neutral Asparagine therefore this variant change does not affect the net charge. The Glutamate at codon 497 is completely conserved across species as are the neighboring amino acids. In silico analysis with Polyphen-2 predicts this variant to be probably damaging. Per the LMM ClinVar submission, the variant was predicted to be pathogenic using a computational tool, which was validated by our laboratory using a set of cardiomyopathy variants with well-established clinical significance. This tool's pathogenic prediction is estimated to be correct 94% of the time (Jordan 2011). Mutation Taster predicts this variant to be disease-causing. Other variants in nearby codons have been reported in association with cardiomyopathy including p.Met493Leu, p.Met493Lys, p.Glu299Lys, p.Glu500Ala, p.Tyr501His, and p.Tyr501Cys. In total the variant has not been seen in ~6,800 published controls and individuals from publicly available population datasets. There is no variation at codon 497 listed in the NHLBI Exome Sequencing Project dataset, which currently includes variant calls on ~6,500 Caucasian and African American individuals (as of 10/8/13). There is also no variation at this codon listed in dbSNP or 1000 genomes (as of 10/8/13). The variant was not observed in the following published control samples: Arad et al. did not find this variant in 100 presumed normal control individuals. Unfortunately we don’t have control data from any of the testing laboratories. Bos et al did not observe the variant in 200 ostensibly healthy controls." (less)
Number of individuals with the variant: 10
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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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Establishment of a Dedicated Inherited Cardiomyopathy Clinic: From Challenges to Improved Patients' Outcome. | Smith E | Journal of the American Heart Association | 2022 | PMID: 35470680 |
Valsartan in early-stage hypertrophic cardiomyopathy: a randomized phase 2 trial. | Ho CY | Nature medicine | 2021 | PMID: 34556856 |
Genomic Context Differs Between Human Dilated Cardiomyopathy and Hypertrophic Cardiomyopathy. | Puckelwartz MJ | Journal of the American Heart Association | 2021 | PMID: 33764162 |
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 |
Hypertrophic cardiomyopathy clinical phenotype is independent of gene mutation and mutation dosage. | Viswanathan SK | PloS one | 2017 | PMID: 29121657 |
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 Failure to Communicate: MYOSIN RESIDUES INVOLVED IN HYPERTROPHIC CARDIOMYOPATHY AFFECT INTER-DOMAIN INTERACTION. | Kronert WA | The Journal of biological chemistry | 2015 | PMID: 26446785 |
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 |
Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy. | Lopes LR | Heart (British Cardiac Society) | 2015 | PMID: 25351510 |
Merits and pitfalls of genetic testing in a hypertrophic cardiomyopathy clinic. | Arad M | The Israel Medical Association journal : IMAJ | 2014 | PMID: 25558701 |
Prediction of sarcomere mutations in subclinical hypertrophic cardiomyopathy. | Captur G | Circulation. Cardiovascular imaging | 2014 | PMID: 25228707 |
Characterization of a phenotype-based genetic test prediction score for unrelated patients with hypertrophic cardiomyopathy. | Bos JM | Mayo Clinic proceedings | 2014 | PMID: 24793961 |
Distinguishing hypertrophic cardiomyopathy-associated mutations from background genetic noise. | Kapplinger JD | Journal of cardiovascular translational research | 2014 | PMID: 24510615 |
T1 measurements identify extracellular volume expansion in hypertrophic cardiomyopathy sarcomere mutation carriers with and without left ventricular hypertrophy. | Ho CY | Circulation. Cardiovascular imaging | 2013 | PMID: 23549607 |
Onset of apical hypertrophic cardiomyopathy in adulthood. | Maron BJ | The American journal of cardiology | 2011 | PMID: 21958740 |
Development and validation of a computational method for assessment of missense variants in hypertrophic cardiomyopathy. | Jordan DM | American journal of human genetics | 2011 | PMID: 21310275 |
Gene mutations in apical hypertrophic cardiomyopathy. | Arad M | Circulation | 2005 | PMID: 16267253 |
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Text-mined citations for rs267606911 ...
HelpRecord last updated May 01, 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.