VCV000037375.37 - ClinVar

NM_000257.4(MYH7):c.77C>T (p.Ala26Val)

Germline

Top reviewed classifications are shown here.

Submission summary:

20 submissions

16 submitters

12 conditions

Reviewed by expert panel

Benign

Dec 2016 by ClinGen Cardio… FDA Recognized Database

for Cardiomyopathy

Somatic

No data submitted for somatic clinical impact

Somatic

No data submitted for oncogenicity

Variant Details

Identifiers

NM_000257.4(MYH7):c.77C>T (p.Ala26Val)

Variation ID: 37375 Accession: VCV000037375.37

Type and length

single nucleotide variant, 1 bp

Location

Cytogenetic: 14q11.2 14: 23433656 (GRCh38) [ NCBI UCSC ] 14: 23902865 (GRCh37) [ NCBI UCSC ]

Timeline in ClinVar

	First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.	Last submission Help The date of the most recent submission for each type of classification for this variant.	Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline	Dec 6, 2014	Oct 20, 2024	Dec 15, 2016

HGVS

Nucleotide	Protein	Molecular consequence
NM_000257.4:c.77C>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.	NP_000248.2:p.Ala26Val	missense
NC_000014.9:g.23433656G>A
NC_000014.8:g.23902865G>A
NG_007884.1:g.7006C>T
LRG_384:g.7006C>T
LRG_384t1:c.77C>T	LRG_384p1:p.Ala26Val
	P12883:p.Ala26Val

... more HGVS ... less HGVS

Protein change

A26V

Other names

p.A26V:GCG>GTG
NM_000257.3(MYH7):c.77C>T

Canonical SPDI

NC_000014.9:23433655:G:A

Functional consequence Help The effect of the variant on RNA or protein function, based on experimental evidence from submitters.

Global minor allele frequency (GMAF) Help The 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.

0.00160 (A)

Allele frequency Help The frequency of the allele represented by this VCV record.

Exome Aggregation Consortium (ExAC) 0.00057

1000 Genomes Project 30x 0.00141

1000 Genomes Project 0.00160

NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008

The Genome Aggregation Database (gnomAD) 0.00021

Trans-Omics for Precision Medicine (TOPMed) 0.00036

The Genome Aggregation Database (gnomAD), exomes 0.00053

Links

ClinGen: CA016817 UniProtKB: P12883#VAR_004566 dbSNP: rs186964570 VarSome

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
Gene	OMIM	HI score Help The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team.	TS score Help The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team.		Within gene Help The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants.	All Help The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene.
MYH7		No evidence available	No evidence available	GRCh38 GRCh37	3643	4925

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.
not specified	Likely benign (2)	criteria provided, multiple submitters, no conflicts	Aug 11, 2015	RCV000036003.15
Primary familial hypertrophic cardiomyopathy	Benign (2)	criteria provided, single submitter	Jun 24, 2013	RCV000148713.13
Hypertrophic cardiomyopathy 1	Conflicting interpretations of pathogenicity (3)	criteria provided, conflicting classifications	Apr 27, 2017	RCV000168831.18
Hypertrophic cardiomyopathy	Benign (1)	criteria provided, single submitter	Jan 16, 2024	RCV000279740.17
MYH7-related skeletal myopathy	Likely benign (1)	criteria provided, single submitter	Apr 27, 2017	RCV000374158.13
Dilated cardiomyopathy 1S	Likely benign (1)	criteria provided, single submitter	Apr 27, 2017	RCV000319538.13
Left ventricular noncompaction cardiomyopathy	Likely benign (1)	criteria provided, single submitter	Jun 14, 2016	RCV000334846.13
Cardiovascular phenotype	Likely benign (1)	criteria provided, single submitter	Oct 27, 2016	RCV000618296.11
not provided	Conflicting interpretations of pathogenicity (4)	criteria provided, conflicting classifications	Apr 1, 2024	RCV000721101.23
Cardiomyopathy	Benign (2)	reviewed by expert panel	Dec 15, 2016	RCV000758056.12
Congenital myopathy with fiber type disproportion Dilated cardiomyopathy 1S Hypertrophic cardiomyopathy 1 MYH7-related skeletal myopathy Myopathy, myosin storage, autosomal recessive Myosin storage myopathy	Likely benign (1)	criteria provided, single submitter	May 24, 2022	RCV002490429.8
Myosin storage myopathy	Likely benign (1)	criteria provided, single submitter	Apr 27, 2017	RCV003320037.8
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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.
Benign (Dec 15, 2016)	reviewed by expert panel (ClinGen CMP ACMG Specifications v1) Method: curation	Cardiomyopathy (Autosomal dominant inheritance) Affected status: unknown Allele origin: germline	ClinGen Cardiomyopathy Variant Curation Expert Panel FDA Recognized Database Accession: SCV000564467.5 First in ClinVar: May 29, 2016 Last updated: Dec 11, 2022	Publications: PubMed (1) PubMed: 29300372 Other databases https://erepo.clinicalgenome.org… https://erepo.clinicalgenome.org/evrepo/ui/interpretation/e26a6375-f03a-4542-9924-d09781723678 Comment: The filtering allele frequency of the c.77C>T (p.Ala26Val) variant in the MYH7 gene is 0.55% (60/8646) of East Asian chromosomes by the Exome Aggregation Consortium … (more) The filtering allele frequency of the c.77C>T (p.Ala26Val) variant in the MYH7 gene is 0.55% (60/8646) of East Asian chromosomes by the Exome Aggregation Consortium (http://exac.broadinstitute.org), which is a high enough frequency to be classified as benign based on thresholds defined by the ClinGen Inherited Cardiomyopathy Expert Panel (BA1; PMID:29300372). (less)
Uncertain significance (Mar 18, 2016)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: reference population	Hypertrophic cardiomyopathy 1 Affected status: unknown Allele origin: germline	Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center Accession: SCV000267409.1 First in ClinVar: Oct 22, 2016 Last updated: Oct 22, 2016	Publications: PubMed (1) PubMed: 15563892 Number of individuals with the variant: 3 Age: 40-69 years Ethnicity/Population group: East Asian Geographic origin: South Korean
Likely pathogenic (Sep 24, 2018)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	not provided Affected status: yes Allele origin: germline	Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute Accession: SCV001433100.1 First in ClinVar: Sep 27, 2020 Last updated: Sep 27, 2020
Likely benign (Oct 27, 2016)	criteria provided, single submitter (Ambry Variant Classification Scheme 2023) Method: clinical testing	Cardiovascular phenotype Affected status: unknown Allele origin: germline	Ambry Genetics Accession: SCV000740061.5 First in ClinVar: Apr 14, 2018 Last updated: May 01, 2024	Comment: This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of … (more) This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. (less)
Benign (Jul 09, 2018)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	Cardiomyopathy Affected status: unknown Allele origin: germline	Color Diagnostics, LLC DBA Color Health Accession: SCV000903190.1 First in ClinVar: May 20, 2019 Last updated: May 20, 2019
Likely benign (Dec 12, 2012)	criteria provided, single submitter (LMM Criteria) Method: clinical testing	not specified Affected status: not provided Allele origin: germline	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine Accession: SCV000059655.6 First in ClinVar: May 03, 2013 Last updated: Mar 04, 2019	Publications: PubMed (5) PubMed: 16137545‚ 15563892‚ 8533830‚ 16115294‚ 19645038 Comment: Ala26Val in exon 3 of MYH7: This variant has been reported in 10 HCM probands of Asian descent and was absent from 832 race-matched control … (more) Ala26Val in exon 3 of MYH7: This variant has been reported in 10 HCM probands of Asian descent and was absent from 832 race-matched control chromosomes (Konno 2 005, Liu 2005, Song 2005, Wang 2009). However, one of the probands had another p athogenic HCM variant on the same copy of the gene which segregated with all 8 a ffected family members (Wang 2009). Although segregation in 3 family members was observed in one other family, an additional 5 individuals had the variant witho ut disease including three over age 70 (Liu 2005). Our laboratory has observed t his variant in one HCM proband and one DCM proband, neither with a family histor y of disease, out of over 3500 cases tested (1/215 Asian probands). This variant has been observed in 1.5% (6/388) of Chinese chromosomes in a broad population (1000 Genomes project, rs186964570), suggesting that it is not disease causing i n isolation. Computational analyses (biochemical amino acid properties, conserva tion, AlignGVGD, PolyPhen2, and SIFT) suggest that the Ala26Val variant is less likely to impact the protein, particularly given the lack of evolutionary conser vation in some mammalian species. In summary, the high frequency of this variant in Asians and poor evolutionary conservation suggest that this variant is benig n but additional data is needed to establish this with certainty. A modifying e ffect cannot be ruled out. (less) Number of individuals with the variant: 2
Benign (Jun 30, 2019)	criteria provided, single submitter (Athena Diagnostics Criteria) Method: clinical testing	not provided Affected status: unknown Allele origin: germline	Athena Diagnostics Accession: SCV001144680.1 First in ClinVar: Jan 20, 2020 Last updated: Jan 20, 2020	Publications: PubMed (17) PubMed: 16137545‚ 19645038‚ 26458567‚ 23711808‚ 20975235‚ 23299917‚ 23861362‚ 27082122‚ 15563892‚ 17476457‚ 18383048‚ 27707468‚ 23403236‚ 16253604‚ 16115294‚ 22763267‚ 19149795
Uncertain significance (Oct 12, 2015)	criteria provided, single submitter (DGD Variant Analysis Guidelines) Method: clinical testing	Familial hypertrophic cardiomyopathy 1 Affected status: unknown Allele origin: unknown	Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia Accession: SCV000296899.3 First in ClinVar: Jul 31, 2016 Last updated: Dec 24, 2022
Likely benign (May 24, 2022)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	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	Fulgent Genetics, Fulgent Genetics Accession: SCV002799469.1 First in ClinVar: Dec 31, 2022 Last updated: Dec 31, 2022
Benign (Jun 24, 2013)	criteria provided, single submitter (Ng et al. (Circ Cardiovasc Genet. 2013)) Method: research	Cardiomyopathy, hypertrophic Affected status: unknown Allele origin: unknown	Biesecker Lab/Clinical Genomics Section, National Institutes of Health Study: ClinSeq Accession: SCV000050867.1 First in ClinVar: Jun 08, 2015 Last updated: Jun 08, 2015 Comments (2): The study set was not selected for affection status in relation to any cancer. Pathogenicity categories were based on literature curation. See Pubmed ID:23861362 for … (more) The study set was not selected for affection status in relation to any cancer. Pathogenicity categories were based on literature curation. See Pubmed ID:23861362 for details. (less) Medical sequencing	Number of individuals with the variant: 1
Likely benign (Jun 14, 2016)	criteria provided, single submitter (ICSL Variant Classification 20161018) Method: clinical testing	Left Ventricular Noncompaction Cardiomyopathy Affected status: unknown Allele origin: germline	Illumina Laboratory Services, Illumina Accession: SCV000386358.2 First in ClinVar: Dec 06, 2016 Last updated: Dec 06, 2016
Likely benign (Aug 11, 2015)	criteria provided, single submitter (GeneDx Variant Classification (06012015)) Method: clinical testing	not specified Affected status: yes Allele origin: germline	GeneDx Accession: SCV000208658.11 First in ClinVar: Feb 24, 2015 Last updated: May 29, 2016	Comment: This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more) This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. (less)
Likely benign (Apr 27, 2017)	criteria provided, single submitter (ICSL Variant Classification Criteria 13 December 2019) Method: clinical testing	MYH7-related skeletal myopathy Affected status: unknown Allele origin: germline	Illumina Laboratory Services, Illumina Accession: SCV000386356.3 First in ClinVar: Dec 06, 2016 Last updated: May 31, 2020	Comment: This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (more) This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. (less)
Likely benign (Apr 27, 2017)	criteria provided, single submitter (ICSL Variant Classification Criteria 13 December 2019) Method: clinical testing	Myosin storage myopathy Affected status: unknown Allele origin: germline	Illumina Laboratory Services, Illumina Accession: SCV000386354.3 First in ClinVar: Dec 06, 2016 Last updated: May 31, 2020	Comment: This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (more) This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. (less)
Likely benign (Apr 27, 2017)	criteria provided, single submitter (ICSL Variant Classification Criteria 13 December 2019) Method: clinical testing	Hypertrophic cardiomyopathy 1 Affected status: unknown Allele origin: germline	Illumina Laboratory Services, Illumina Accession: SCV000386357.3 First in ClinVar: Dec 06, 2016 Last updated: May 31, 2020	Publications: PubMed (4) PubMed: 16137545‚ 22763267‚ 19645038‚ 15563892 Comment: This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (more) This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. (less)
Likely benign (Apr 27, 2017)	criteria provided, single submitter (ICSL Variant Classification Criteria 13 December 2019) Method: clinical testing	Dilated cardiomyopathy 1S Affected status: unknown Allele origin: germline	Illumina Laboratory Services, Illumina Accession: SCV000386355.3 First in ClinVar: Dec 06, 2016 Last updated: May 31, 2020	Comment: This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (more) This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. (less)
Benign (Jan 16, 2024)	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015)) Method: clinical testing	Hypertrophic cardiomyopathy Affected status: unknown Allele origin: germline	Labcorp Genetics (formerly Invitae), Labcorp Accession: SCV000557966.9 First in ClinVar: Dec 06, 2016 Last updated: Feb 14, 2024
Likely benign (Apr 01, 2024)	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2) Method: clinical testing	not provided Affected status: yes Allele origin: germline	CeGaT Center for Human Genetics Tuebingen Accession: SCV005041970.6 First in ClinVar: May 12, 2024 Last updated: Oct 20, 2024	Comment: MYH7: BP4, BS1 Number of individuals with the variant: 1
Uncertain significance (Jun 01, 2014)	no assertion criteria provided Method: research	Cardiomyopathy, hypertrophic (Autosomal dominant inheritance) Affected status: unknown Allele origin: germline	CSER _CC_NCGL, University of Washington Study: ESP 6500 variant annotation Accession: SCV000190443.1 First in ClinVar: Dec 06, 2014 Last updated: Dec 06, 2014 Comment: Variants classified for the Actionable exomic incidental findings in 6503 participants: challenges of variant classification manuscript
Likely benign (Aug 22, 2016)	no assertion criteria provided Method: provider interpretation	not provided Affected status: unknown Allele origin: germline	Stanford Center for Inherited Cardiovascular Disease, Stanford University Accession: SCV000280379.2 First in ClinVar: Nov 09, 2018 Last updated: Nov 09, 2018	Comment: Given the allele frequency in East Asians in ExAC, we consider this variant likely benign (AF 0.0069).
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Comment:

The filtering allele frequency of the c.77C>T (p.Ala26Val) variant in the MYH7 gene is 0.55% (60/8646) of East Asian chromosomes by the Exome Aggregation Consortium (http://exac.broadinstitute.org), which is a high enough frequency to be classified as benign based on thresholds defined by the ClinGen Inherited Cardiomyopathy Expert Panel (BA1; PMID:29300372).

Comment:

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

Comment:

Ala26Val in exon 3 of MYH7: This variant has been reported in 10 HCM probands of Asian descent and was absent from 832 race-matched control chromosomes (Konno 2 005, Liu 2005, Song 2005, Wang 2009). However, one of the probands had another p athogenic HCM variant on the same copy of the gene which segregated with all 8 a ffected family members (Wang 2009). Although segregation in 3 family members was observed in one other family, an additional 5 individuals had the variant witho ut disease including three over age 70 (Liu 2005). Our laboratory has observed t his variant in one HCM proband and one DCM proband, neither with a family histor y of disease, out of over 3500 cases tested (1/215 Asian probands). This variant has been observed in 1.5% (6/388) of Chinese chromosomes in a broad population (1000 Genomes project, rs186964570), suggesting that it is not disease causing i n isolation. Computational analyses (biochemical amino acid properties, conserva tion, AlignGVGD, PolyPhen2, and SIFT) suggest that the Ala26Val variant is less likely to impact the protein, particularly given the lack of evolutionary conser vation in some mammalian species. In summary, the high frequency of this variant in Asians and poor evolutionary conservation suggest that this variant is benig n but additional data is needed to establish this with certainty. A modifying e ffect cannot be ruled out.

Comment:

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

Comment:

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

Comment:

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

Comment:

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.

Comment:

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

Comment:

Citations for germline classification of this variant

Title	Author	Journal	Year	Link
Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel.	Kelly MA	Genetics in medicine : official journal of the American College of Medical Genetics	2018	PMID: 29300372
Does Sudden Unexplained Nocturnal Death Syndrome Remain the Autopsy-Negative Disorder: A Gross, Microscopic, and Molecular Autopsy Investigation in Southern China.	Zhang L	Mayo Clinic proceedings	2016	PMID: 27707468
Identification of novel mutations including a double mutation in patients with inherited cardiomyopathy by a targeted sequencing approach using the Ion Torrent PGM system.	Zhao Y	International journal of molecular medicine	2016	PMID: 27082122
Targeted next-generation sequencing of candidate genes reveals novel mutations in patients with dilated cardiomyopathy.	Zhao Y	International journal of molecular medicine	2015	PMID: 26458567
Interpreting secondary cardiac disease variants in an exome cohort.	Ng D	Circulation. Cardiovascular genetics	2013	PMID: 23861362
Mutation spectrum in a large cohort of unrelated Chinese patients with hypertrophic cardiomyopathy.	Liu W	The American journal of cardiology	2013	PMID: 23711808
Roadmap to determine the point mutations involved in cardiomyopathy disorder: a Bayesian approach.	Kumar A	Gene	2013	PMID: 23403236
New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variants.	Andreasen C	European journal of human genetics : EJHG	2013	PMID: 23299917
Population-based variation in cardiomyopathy genes.	Golbus JR	Circulation. Cardiovascular genetics	2012	PMID: 22763267
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
A novel mutation of the beta myosin heavy chain gene responsible for familial hypertrophic cardiomyopathy.	Wang J	Clinical cardiology	2009	PMID: 19645038
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
Worse prognosis with gene mutations of beta-myosin heavy chain than myosin-binding protein C in Chinese patients with hypertrophic cardiomyopathy.	Wang S	Clinical cardiology	2008	PMID: 18383048
Mutation of junctophilin type 2 associated with hypertrophic cardiomyopathy.	Matsushita Y	Journal of human genetics	2007	PMID: 17476457
Differences in diagnostic value of four electrocardiographic voltage criteria for hypertrophic cardiomyopathy in a genotyped population.	Konno T	The American journal of cardiology	2005	PMID: 16253604
Characteristics of the beta myosin heavy chain gene Ala26Val mutation in a Chinese family with hypertrophic cardiomyopathy.	Liu SX	European journal of internal medicine	2005	PMID: 16137545
Phenotypic differences between electrocardiographic and echocardiographic determination of hypertrophic cardiomyopathy in genetically affected subjects.	Konno T	Journal of internal medicine	2005	PMID: 16115294
Mutations profile in Chinese patients with hypertrophic cardiomyopathy.	Song L	Clinica chimica acta; international journal of clinical chemistry	2005	PMID: 15563892
Missense mutation of the beta-cardiac myosin heavy-chain gene in hypertrophic cardiomyopathy.	Arai S	American journal of medical genetics	1995	PMID: 8533830
https://erepo.clinicalgenome.org/evrepo/ui/interpretation/e26a6375-f03a-4542-9924-d09781723678	-	-	-	-
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Text-mined citations for rs186964570 ...

These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Nov 10, 2024

ClinVar Genomic variation as it relates to human health

NM_000257.4(MYH7):c.77C>T (p.Ala26Val)

Variant Details

Genes

Conditions - Germline

Submissions - Germline

Germline Functional Evidence

Citations for germline classification of this variant

Text-mined citations for rs186964570 ...