ClinVar Genomic variation as it relates to human health
NM_000257.4(MYH7):c.5134C>T (p.Arg1712Trp)
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.5134C>T (p.Arg1712Trp)
Variation ID: 14118 Accession: VCV000014118.28
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 14q11.2 14: 23415652 (GRCh38) [ NCBI UCSC ] 14: 23884861 (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 10, 2016 Apr 20, 2024 Jun 16, 2021 - HGVS
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Nucleotide Protein Molecular
consequenceNM_000257.4:c.5134C>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000248.2:p.Arg1712Trp missense NR_126491.1:n.84G>A non-coding transcript variant NC_000014.9:g.23415652G>A NC_000014.8:g.23884861G>A NG_007884.1:g.25010C>T LRG_384:g.25010C>T LRG_384t1:c.5134C>T P12883:p.Arg1712Trp - Protein change
- R1712W
- Other names
- NM_000257.4(MYH7):c.5134C>T
- Canonical SPDI
- NC_000014.9:23415651: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) 0.00000
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
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 | |
LOC126861897 | - | - | - | GRCh38 | - | 516 |
MHRT | - | - | GRCh38 | - | 769 |
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
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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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Feb 1, 2005 | RCV000015175.29 | |
Likely pathogenic (1) |
criteria provided, single submitter
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Sep 27, 2023 | RCV000480992.4 | |
Likely pathogenic (4) |
reviewed by expert panel
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Jun 16, 2021 | RCV000546277.14 | |
Likely pathogenic (1) |
criteria provided, single submitter
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Jan 5, 2023 | RCV002345244.2 | |
Pathogenic (1) |
no assertion criteria provided
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Feb 1, 2005 | RCV003151728.1 | |
Pathogenic (1) |
criteria provided, single submitter
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Jun 1, 2023 | RCV003319168.1 | |
Likely pathogenic (1) |
criteria provided, single submitter
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Nov 8, 2023 | RCV003894804.1 |
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. |
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Likely pathogenic
(Jun 16, 2021)
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reviewed by expert panel
Method: curation
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Hypertrophic cardiomyopathy
(Autosomal dominant inheritance)
Affected status: unknown
Allele origin:
germline
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ClinGen Cardiomyopathy Variant Curation Expert Panel
Accession: SCV001842664.1
First in ClinVar: Sep 12, 2021 Last updated: Sep 12, 2021 |
Comment:
The c.5134C>T (p.Arg1712Trp) variant in MYH7 has been reported in the heterozygous state in at least 13 individuals with HCM, 2 of whom also had … (more)
The c.5134C>T (p.Arg1712Trp) variant in MYH7 has been reported in the heterozygous state in at least 13 individuals with HCM, 2 of whom also had additional variants in other HCM-associated genes (PS4_Moderate; Hougs 2005 PMID:15483641; Gruner 2011 PMID:21511876; Jensen 2013 PMID:23197161; Hagen 2013 PMID:24498601; Mu 2019 https://www.actamedicamediterranea.com/archive/2019/medica-5/pathogenic-mutation-detection-and-correlation-analysis-between-genotype-and-phenotype-of-familial-hypertrophic-cardiomyopathy-in-chinese-han-nationality/pdf; Ambry pers. comm.; Centenary Institute Sydney pers. comm.; CHEO pers. comm.; GeneDx pers. comm.; Invitae pers. comm.; LMM pers. comm.; OMGL pers. comm.). This variant segregated with HCM in at least 6 affected relatives from 4 families (PP1_Moderate; Hougs 2005 PMID:15483641; Mu 2019; Ambry pers comm.; Centenary Institute Sydney pers comm.). This variant has also been identified in the homozygous state in 2 siblings from a consanguineous family with myopathy and normal cardiac function (Beecroft 2019 PMID:31130376). Data from the gnomAD population database (v2.1.1) is insufficient to assess the frequency of this variant; however, this variant is absent from the ExAC database (PM2; http://gnomad.broadinstitute.org; http://exac.broadinstitute.org). 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 likely pathogenic for hypertrophic cardiomyopathy in an autosomal dominant manner. ACMG/AMP Criteria applied: PS4_Moderate; PP1_Moderate; PM2; PP3. (less)
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Likely pathogenic
(Jan 05, 2023)
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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: SCV002646610.2
First in ClinVar: Nov 29, 2022 Last updated: Apr 15, 2023 |
Comment:
The p.R1712W variant (also known as c.5134C>T), located in coding exon 33 of the MYH7 gene, results from a C to T substitution at nucleotide … (more)
The p.R1712W variant (also known as c.5134C>T), located in coding exon 33 of the MYH7 gene, results from a C to T substitution at nucleotide position 5134. The arginine at codon 1712 is replaced by tryptophan, an amino acid with dissimilar properties. This alteration has been detected in several hypertrophic cardiomyopathy (HCM) cohorts and individuals reported to have HCM (Hougs L et al. Eur. J. Hum. Genet. 2005;13:161-5; Glotov AS et al. Clin. Chim. Acta. 2015;446:132-40; Burns C et al. Circ Cardiovasc Genet. 2017;10:e001666; Ho CY et al. Circulation, 2018 Oct;138:1387-1398; Ambry internal data). In one family, both this alteration and an alteration in MT-CYB (p.C93Y) were observed to segregate with disease (Hagen CM et al. Mol Genet Genomic Med. 2013;1:54-65). This alteration has also been reported in the homozygous state in siblings with myopathy (Beecroft SJ et al. Neuromuscul. Disord., 2019 Jun;29:456-467). Another variant impacting this codon (p.R1712Q) has also been reported in association with HCM (Morita H et al. N. Engl. J. Med. 2008;358:1899-908). This amino acid position is highly 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
(Sep 27, 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: SCV000565293.4
First in ClinVar: Apr 27, 2017 Last updated: Oct 05, 2023 |
Comment:
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; … (more)
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; In silico analysis also suggests this variant may impact gene splicing; in the absence of RNA/functional studies, the actual effect of this sequence change is unknown; This variant is associated with the following publications: (PMID: 24498601, 23197161, 19035361, 25961035, 15483641, 32710294, 34691145, 36264615, 36243179, 32894683, 21511876, Mu_2019_article, 31130376) (less)
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Likely Pathogenic
(Jul 19, 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: SCV004834024.1
First in ClinVar: Apr 20, 2024 Last updated: Apr 20, 2024 |
Comment:
This missense variant replaces arginine with tryptophan at codon 1712 in the LMM domain of the MYH7 protein. Computational prediction suggests that this variant may … (more)
This missense variant replaces arginine with tryptophan at codon 1712 in the LMM domain of the MYH7 protein. Computational prediction suggests that this variant may have deleterious impact on protein structure and function (internally defined REVEL score threshold >= 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has been reported in individuals affected with hypertrophic cardiomyopathy (PMID: 15483641, 23197161, 24498601, 25892673, 28790153, 30297972, doi:10.19193/0393-6384_2019_5_383). Some of these individuals also carried a mitochondrial variant in the MT-CYB gene (PMID: 24498601). It has been shown that this variant segregates with disease in multiple affected individuals across two families (PMID: 24498601, doi:10.19193/0393-6384_2019_5_383). This variant has also been reported in homozygous state in two siblings affected with recessive myopathy with no cardiac involvement; both heterozygous parents were unaffected (PMID: 31130376). A different variant occurring at the same codon, p.Arg1712Gln, is a well documented pathogenic mutation (Clinvar variation ID: 36642), indicating that arginine at this position is important for MYH7 protein function. This variant has not been identified 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: 1
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Likely Pathogenic
(Jul 14, 2020)
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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: SCV000710842.3
First in ClinVar: Apr 09, 2018 Last updated: Apr 20, 2024 |
Comment:
The p.Arg1712Trp variant in MYH7 has been reported in the heterozygous state in at least 6 individuals with hypertrophic cardiomyopathy (HCM) and segregated with disease … (more)
The p.Arg1712Trp variant in MYH7 has been reported in the heterozygous state in at least 6 individuals with hypertrophic cardiomyopathy (HCM) and segregated with disease in 6 affected individuals from two families (Hougs 2005 PMID:15483641, Gruner 2011 PMID:21511876, Jensen 2013 PMID:23197161, Hagen 2013 PMID:24498601, Mu 2019, LMM data). One of these individuals also carried another disease-causing variant in another HCM gene (Gruner 2011 PMID:21511876). This variant has also been identified in the homozygous state in 2 siblings from a consanguineous family with myopathy and normal cardiac function (Beecroft 2019 PMID:31130376). This variant been reported by other clinical laboratories in ClinVar (Variation ID 14118). Data from the gnomAD population database is insufficient to assess the frequency of this variant; however, this variant is absent from the ExAC database (http://gnomad.broadinstitute.org; http://exac.broadinstitute.org). In vitro functional studies provide some evidence that this variant impacts protein function (Beecroft 2019 PMID:31130376) and computational prediction tools and conservation analysis are consistent with pathogenicity. An additional variant involving this codon (p.Arg1712Gln) has been identified in individuals with HCM and is classified as likely pathogenic by the ClinGen Inherited Cardiomyopathy Expert Panel (SCV000564455.2). In summary, although additional studies are required to fully establish its clinical significance, this variant meets criteria to be classified as likely pathogenic for autosomal dominant HCM. ACMG/AMP Criteria applied: PS4_Supporting, PP1_Moderate, PM2, PS3_Supporting, PP3, PM5_Supporting. (less)
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Pathogenic
(Jun 01, 2023)
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criteria provided, single submitter
Method: clinical testing
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Primary familial hypertrophic cardiomyopathy
Affected status: yes
Allele origin:
germline
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Clinical Center for Gene Diagnosis and Therapy, Department of Cardiovascular Surgery, The Second Xiangya Hospital of Central South University
Accession: SCV003932411.1
First in ClinVar: Aug 05, 2023 Last updated: Aug 05, 2023 |
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Pathogenic
(Oct 15, 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: SCV000623734.8
First in ClinVar: Dec 26, 2017 Last updated: Feb 20, 2024 |
Comment:
This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 1712 of the MYH7 protein … (more)
This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 1712 of the MYH7 protein (p.Arg1712Trp). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with hypertrophic cardiomyopathy (PMID: 15483641; Invitae). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 14118). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. This variant disrupts the p.Arg1712 amino acid residue in MYH7. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 18403758, 21511876, 23785128, 24510615, 27247418, 27532257). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic. (less)
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Likely pathogenic
(Nov 08, 2023)
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criteria provided, single submitter
Method: clinical testing
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MYH7-related condition
Affected status: unknown
Allele origin:
germline
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PreventionGenetics, part of Exact Sciences
Accession: SCV004716659.1
First in ClinVar: Mar 16, 2024 Last updated: Mar 16, 2024 |
Comment:
The MYH7 c.5134C>T variant is predicted to result in the amino acid substitution p.Arg1712Trp. This variant was reported to segregate in families and other unrelated … (more)
The MYH7 c.5134C>T variant is predicted to result in the amino acid substitution p.Arg1712Trp. This variant was reported to segregate in families and other unrelated individuals with hypertrophic cardiomyopathy (Hougs et al. 2005. PubMed ID: 15483641; Supp. Table 1 in Ho et al. 2018. PubMed ID: 30297972; Hagen et al. 2013. PubMed ID: 24498601; Supp. Table 2 in Burns et al. 2017. PubMed ID: 28790153). This variant was also reported in the homozygous state in two siblings with features of a congenital myopathy (Beecroft et al. 2019. PubMed ID: 31130376). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. This variant has also been reported as likely pathogenic by the ClinGen Cardiomyopathy Variant Curation Expert Panel (https://www.ncbi.nlm.nih.gov/clinvar/variation/14118/). This variant is interpreted as likely pathogenic. (less)
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Pathogenic
(Feb 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: SCV000035432.3
First in ClinVar: Apr 04, 2013 Last updated: Mar 18, 2023 |
Comment on evidence:
Familial Hypertrophic Cardiomyopathy 1 In 2 Danish patients with familial hypertrophic cardiomyopathy (CMH1; 192600), Hougs et al. (2005) identified a c.21815C-T transition in exon 35 … (more)
Familial Hypertrophic Cardiomyopathy 1 In 2 Danish patients with familial hypertrophic cardiomyopathy (CMH1; 192600), Hougs et al. (2005) identified a c.21815C-T transition in exon 35 of the MYH7 gene, resulting in an arg1712-to-trp substitution (R1712W) in the myosin rod region. Autosomal Recessive Myosin Storage Congenital Myopathy 7B In 2 sibs, born of consanguineous Middle Eastern parents (family AUS1) with autosomal recessive myosin storage myopathy-7B (CMYP7B; 255160), Beecroft et al. (2019) identified a homozygous c.5134C-T transition in the MYH7 gene, resulting in an R1712W substitution. The mutation, which was found by panel-based sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. It was not present in the gnomAD database. Neither patient had cardiac involvement. Transfection of the mutation into COS7 cells showed that the mutant protein formed small round inclusions, suggesting impaired ability to self-assemble into normal long filaments. Functional studies of myofibers from 1 of the patients showed that type II fibers had increased absolute force compared to control fibers, which may reflect a possible compensatory effect. (less)
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Pathogenic
(Feb 01, 2005)
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no assertion criteria provided
Method: literature only
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CONGENITAL MYOPATHY 7B, MYOSIN STORAGE, AUTOSOMAL RECESSIVE
Affected status: not provided
Allele origin:
germline
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OMIM
Accession: SCV003841183.1
First in ClinVar: Mar 18, 2023 Last updated: Mar 18, 2023 |
Comment on evidence:
Familial Hypertrophic Cardiomyopathy 1 In 2 Danish patients with familial hypertrophic cardiomyopathy (CMH1; 192600), Hougs et al. (2005) identified a c.21815C-T transition in exon 35 … (more)
Familial Hypertrophic Cardiomyopathy 1 In 2 Danish patients with familial hypertrophic cardiomyopathy (CMH1; 192600), Hougs et al. (2005) identified a c.21815C-T transition in exon 35 of the MYH7 gene, resulting in an arg1712-to-trp substitution (R1712W) in the myosin rod region. Autosomal Recessive Myosin Storage Congenital Myopathy 7B In 2 sibs, born of consanguineous Middle Eastern parents (family AUS1) with autosomal recessive myosin storage myopathy-7B (CMYP7B; 255160), Beecroft et al. (2019) identified a homozygous c.5134C-T transition in the MYH7 gene, resulting in an R1712W substitution. The mutation, which was found by panel-based sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. It was not present in the gnomAD database. Neither patient had cardiac involvement. Transfection of the mutation into COS7 cells showed that the mutant protein formed small round inclusions, suggesting impaired ability to self-assemble into normal long filaments. Functional studies of myofibers from 1 of the patients showed that type II fibers had increased absolute force compared to control fibers, which may reflect a possible compensatory effect. (less)
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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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Targeted Sequencing of 242 Clinically Important Genes in the Russian Population From the Ivanovo Region. | Ramensky VE | Frontiers in genetics | 2021 | PMID: 34691145 |
Disclosure of secondary findings in exome sequencing of 2480 Japanese cancer patients. | Horiuchi Y | Human genetics | 2021 | PMID: 32710294 |
Recessive MYH7-related myopathy in two families. | Beecroft SJ | Neuromuscular disorders : NMD | 2019 | PMID: 31130376 |
Genotype and Lifetime Burden of Disease in Hypertrophic Cardiomyopathy: Insights from the Sarcomeric Human Cardiomyopathy Registry (SHaRe). | Ho CY | Circulation | 2018 | PMID: 30297972 |
Multiple Gene Variants in Hypertrophic Cardiomyopathy in the Era of Next-Generation Sequencing. | Burns C | Circulation. Cardiovascular genetics | 2017 | PMID: 28790153 |
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 |
Targeted next-generation sequencing (NGS) of nine candidate genes with custom AmpliSeq in patients and a cardiomyopathy risk group. | Glotov AS | Clinica chimica acta; international journal of clinical chemistry | 2015 | PMID: 25892673 |
Distinguishing hypertrophic cardiomyopathy-associated mutations from background genetic noise. | Kapplinger JD | Journal of cardiovascular translational research | 2014 | PMID: 24510615 |
MT-CYB mutations in hypertrophic cardiomyopathy. | Hagen CM | Molecular genetics & genomic medicine | 2013 | PMID: 24498601 |
Targeted sequence capture and GS-FLX Titanium sequencing of 23 hypertrophic and dilated cardiomyopathy genes: implementation into diagnostics. | Mook OR | Journal of medical genetics | 2013 | PMID: 23785128 |
Penetrance of hypertrophic cardiomyopathy in children and adolescents: a 12-year follow-up study of clinical screening and predictive genetic testing. | Jensen MK | Circulation | 2013 | PMID: 23197161 |
Sarcomere protein gene mutations in patients with apical hypertrophic cardiomyopathy. | Gruner C | Circulation. Cardiovascular genetics | 2011 | PMID: 21511876 |
Shared genetic causes of cardiac hypertrophy in children and adults. | Morita H | The New England journal of medicine | 2008 | PMID: 18403758 |
One third of Danish hypertrophic cardiomyopathy patients with MYH7 mutations have mutations [corrected] in MYH7 rod region. | Hougs L | European journal of human genetics : EJHG | 2005 | PMID: 15483641 |
Hypertrophic cardiomyopathy: low frequency of mutations in the beta-myosin heavy chain (MYH7) and cardiac troponin T (TNNT2) genes among Spanish patients. | García-Castro M | Clinical chemistry | 2003 | PMID: 12881443 |
https://erepo.clinicalgenome.org/evrepo/ui/interpretation/0fba9f4e-9716-4bd7-ab0b-8985781f4575 | - | - | - | - |
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Text-mined citations for rs121913650 ...
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.