VCV000043044.30 - ClinVar

NM_000257.4(MYH7):c.4909G>A (p.Ala1637Thr)

Germline

Top reviewed classifications are shown here.

Submission summary:

14 submissions

14 submitters

10 conditions

Reviewed by expert panel

Likely benign

Mar 2021 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.4909G>A (p.Ala1637Thr)

Variation ID: 43044 Accession: VCV000043044.30

Type and length

single nucleotide variant, 1 bp

Location

Cytogenetic: 14q11.2 14: 23416048 (GRCh38) [ NCBI UCSC ] 14: 23885257 (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 8, 2024	Mar 22, 2021

HGVS

Nucleotide	Protein	Molecular consequence
NM_000257.4:c.4909G>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.	NP_000248.2:p.Ala1637Thr	missense
NR_126491.1:n.309C>T		non-coding transcript variant
NC_000014.9:g.23416048C>T
NC_000014.8:g.23885257C>T
NG_007884.1:g.24614G>A
LRG_384:g.24614G>A
LRG_384t1:c.4909G>A

... more HGVS ... less HGVS

Protein change

A1637T

Other names

p.A1637T:GCC>ACC
NM_000257.3(MYH7):c.4909G>A

Canonical SPDI

NC_000014.9:23416047:C:T

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.

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

Trans-Omics for Precision Medicine (TOPMed) 0.00038

NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00046

Exome Aggregation Consortium (ExAC) 0.00006

The Genome Aggregation Database (gnomAD), exomes 0.00006

The Genome Aggregation Database (gnomAD) 0.00034

Links

ClinGen: CA015454 dbSNP: rs141122361 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	3637	4914
LOC126861897	-	-	-	GRCh38	-	531
MHRT		-	-	GRCh38	-	785

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 (1)	criteria provided, single submitter	Jul 19, 2018	RCV000035938.8
Primary familial hypertrophic cardiomyopathy	Uncertain significance (1)	criteria provided, single submitter	Jun 1, 2014	RCV000148696.3
Hypertrophic cardiomyopathy	Uncertain significance (1)	criteria provided, single submitter	Jan 31, 2024	RCV000465008.10
Cardiovascular phenotype	Likely benign (1)	criteria provided, single submitter	Jul 20, 2020	RCV000620929.4
Cardiomyopathy	Likely benign (4)	reviewed by expert panel	Mar 22, 2021	RCV000758026.10
Hypertrophic cardiomyopathy 1	Benign (1)	criteria provided, single submitter	May 28, 2019	RCV000989185.1
Ventricular fibrillation	Likely benign (1)	criteria provided, single submitter	Nov 21, 2017	RCV000853439.1
Dilated cardiomyopathy 1S	Uncertain significance (1)	criteria provided, single submitter	Apr 30, 2021	RCV002227441.1
not provided	Conflicting interpretations of pathogenicity (2)	criteria provided, conflicting classifications	Mar 16, 2023	RCV001703873.5
MYH7-related disorder	Likely benign (1)	no assertion criteria provided	Apr 28, 2022	RCV004541080.2

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.
Likely benign (Mar 22, 2021)	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: SCV000564454.5 First in ClinVar: May 29, 2016 Last updated: Sep 10, 2021	Publications: PubMed (1) PubMed: 29300372 Other databases https://erepo.clinicalgenome.org… https://erepo.clinicalgenome.org/evrepo/ui/interpretation/ccdf0002-db7d-4fd8-989a-73c765052ee9 Comment: The c.4909G>A (p.Ala1637Thr) variant in MYH7 has been observed in 0.060% (FAF 95% CI; 22/24960) of African chromosomes in gnomAD v2.1.1 (http://gnomad.broadinstitute.org), which is a … (more) The c.4909G>A (p.Ala1637Thr) variant in MYH7 has been observed in 0.060% (FAF 95% CI; 22/24960) of African chromosomes in gnomAD v2.1.1 (http://gnomad.broadinstitute.org), which is a high enough frequency to be classified as likely benign based on thresholds defined by the ClinGen Inherited Cardiomyopathy Expert Panel (BS1; Kelly 2018 PMID:29300372). Additionally, computational prediction tools and conservation analysis suggest that this variant may not impact the protein (BP4). In summary, this variant meets criteria to be classified as likely benign for cardiomyopathy in an autosomal dominant manner. MYH7-specific ACMG/AMP criteria applied (Kelly 2018 PMID:29300372): BS1, BP4 (less)
Uncertain significance (Mar 16, 2023)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	not provided Affected status: unknown Allele origin: germline	Revvity Omics, Revvity Accession: SCV003817731.2 First in ClinVar: Mar 04, 2023 Last updated: Feb 04, 2024
Uncertain significance (Jun 01, 2014)	criteria provided, single submitter (Amendola et al. (Genome Res. 2015)) 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: SCV000190425.2 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	Publications: PubMed (1) PubMed: 25637381 Comment: Allele frequency may indicate a low penetrance or likely benign variant
Likely benign (Jul 19, 2018)	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: SCV000059589.5 First in ClinVar: May 03, 2013 Last updated: May 29, 2016	Publications: PubMed (1) PubMed: 20624503 Comment: Ala1637Thr in exon34 of MYH7: This variant is not expected to have clinical sign ificance due to a lack of evolutionary conservation of the affected … (more) Ala1637Thr in exon34 of MYH7: This variant is not expected to have clinical sign ificance due to a lack of evolutionary conservation of the affected amino acid ( of note, 5 mammalian species have a threonine (Thr) at this position despite hig h nearby amino acid conservation). In addition, this variant was predicted to be benign using a computational tool clinically validated by our laboratory. This tool's benign prediction is estimated to be correct 89% of the time (Jordan 2011 ). It has also been identified in 5/10402 African American chromosomes by the Ex ome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs14112 2361). (less) Number of individuals with the variant: 4
Benign (May 28, 2019)	criteria provided, single submitter (Mendelics Assertion Criteria 2017) Method: clinical testing	Hypertrophic cardiomyopathy 1 Affected status: unknown Allele origin: unknown	Mendelics Accession: SCV001139408.1 First in ClinVar: Jan 09, 2020 Last updated: Jan 09, 2020
Likely benign (Nov 21, 2017)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: research	Ventricular fibrillation Idiopathic VF Affected status: yes Allele origin: germline	Agnes Ginges Centre for Molecular Cardiology, Centenary Institute Accession: SCV000996350.2 First in ClinVar: Nov 02, 2019 Last updated: Nov 02, 2019	Publications: PubMed (2) PubMed: 20624503‚ 24510615 Comment: The MYH7 Ala1637Thr variant has been previously reported in a HCM patient (Millat G et al., 2010), but has also been identified in a healthy … (more) The MYH7 Ala1637Thr variant has been previously reported in a HCM patient (Millat G et al., 2010), but has also been identified in a healthy control (Kapplinger JD, et al., 2014). We identified this variant in a proband diagnosed with idiopathic ventricular fibrillation, who has a family history of sudden death. The variant is present in the Exome Aggregation Consortium dataset (http://exac.broadinstitute.org/) at an allele frequency >0.000075, which is higher then expected for an inherited arrhythmia syndrome. In silico tools SIFT, PolyPhen2 and Polyphen-HCM predict this variant to be benign, however MutationTaster predicts this variant to be disease-causing. In summary, the variant is unlikely to be causing disease as it is present in the general population at an elevated frequency, has been identified in atleast 1 control and 3/4 in silico tools predict the variant to be benign, therefore we classify MYH7 Ala1637Thr as "likely benign". (less)
Likely benign (Mar 09, 2020)	criteria provided, single submitter (GeneDx Variant Classification Process June 2021) Method: clinical testing	Not Provided Affected status: yes Allele origin: germline	GeneDx Accession: SCV000208612.11 First in ClinVar: Feb 24, 2015 Last updated: May 29, 2016	Comment: This variant is associated with the following publications: (PMID: 24055113, 20800588, 20624503, 23299917, 25637381, 24510615, 22958901, 23782526, 23403236, 29300372)
Likely benign (Oct 19, 2021)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	Cardiomyopathy Affected status: unknown Allele origin: germline	CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario Accession: SCV003838744.1 First in ClinVar: Mar 11, 2023 Last updated: Mar 11, 2023	Publications: PubMed (1) PubMed: 25741868
Uncertain significance (Feb 21, 2023)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	Cardiomyopathy Affected status: unknown Allele origin: germline	Color Diagnostics, LLC DBA Color Health Accession: SCV001349565.3 First in ClinVar: Jun 22, 2020 Last updated: Feb 14, 2024	Publications: PubMed (2) PubMed: 20624503‚ 27574918 Comment: This missense variant replaces alanine with threonine at codon 1637 of the MYH7 protein. Computational prediction is inconclusive regarding the impact of this variant on … (more) This missense variant replaces alanine with threonine at codon 1637 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 two individuals affected with hypertrophic cardiomyopathy (PMID: 20624503, 27574918). This variant has also been identified in 25/282810 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The elevated variant allele frequency in the general population indicates that this variant may not be disease-causing. However, additional studies are necessary to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance. (less)
Uncertain significance (Jan 31, 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: SCV000546282.9 First in ClinVar: Apr 17, 2017 Last updated: Feb 14, 2024	Publications: PubMed (4) PubMed: 28492532‚ 20624503‚ 23782526‚ 27574918 Comment: This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 1637 of the MYH7 protein (p.Ala1637Thr). … (more) This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 1637 of the MYH7 protein (p.Ala1637Thr). This variant is present in population databases (rs141122361, gnomAD 0.09%). This missense change has been observed in individual(s) with hypertrophic cardiomyopathy (PMID: 20624503, 23782526, 27574918). ClinVar contains an entry for this variant (Variation ID: 43044). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The threonine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. (less)
Likely benign (Jul 20, 2020)	criteria provided, single submitter (Ambry Variant Classification Scheme 2023) Method: clinical testing	Cardiovascular phenotype Affected status: unknown Allele origin: germline	Ambry Genetics Accession: SCV000735725.5 First in ClinVar: Apr 14, 2018 Last updated: May 01, 2024	Publications: PubMed (6) PubMed: 20624503‚ 22958901‚ 23403236‚ 24510615‚ 27574918‚ 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 … (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)
Uncertain significance (Apr 30, 2021)	criteria provided, single submitter (NYGC Assertion Criteria 2020) Method: clinical testing	Dilated cardiomyopathy 1S Affected status: unknown Allele origin: inherited	New York Genome Center Study: CSER-NYCKidSeq Accession: SCV002506913.1 First in ClinVar: May 16, 2022 Last updated: May 16, 2022	Clinical Features: Primary dilated cardiomyopathy (present) Secondary finding: no
Uncertain Significance (Feb 05, 2024)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	Cardiomyopathy (Autosomal dominant inheritance) Affected status: unknown Allele origin: germline	All of Us Research Program, National Institutes of Health Accession: SCV004814365.1 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)	Publications: PubMed (2) PubMed: 20624503‚ 27574918 Comment: This missense variant replaces alanine with threonine at codon 1637 of the MYH7 protein. Computational prediction is inconclusive regarding the impact of this variant on … (more) This missense variant replaces alanine with threonine at codon 1637 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 two individuals affected with hypertrophic cardiomyopathy (PMID: 20624503, 27574918). This variant has also been identified in 25/282810 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The elevated variant allele frequency in the general population indicates that this variant may not be disease-causing. However, additional studies are necessary to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance. (less) Number of individuals with the variant: 16
Likely benign (Apr 28, 2022)	no assertion criteria provided Method: clinical testing	MYH7-related condition Affected status: unknown Allele origin: germline	PreventionGenetics, part of Exact Sciences Accession: SCV004783522.2 First in ClinVar: Mar 16, 2024 Last updated: Oct 08, 2024	Comment: This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
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Comment:

The c.4909G>A (p.Ala1637Thr) variant in MYH7 has been observed in 0.060% (FAF 95% CI; 22/24960) of African chromosomes in gnomAD v2.1.1 (http://gnomad.broadinstitute.org), which is a high enough frequency to be classified as likely benign based on thresholds defined by the ClinGen Inherited Cardiomyopathy Expert Panel (BS1; Kelly 2018 PMID:29300372). Additionally, computational prediction tools and conservation analysis suggest that this variant may not impact the protein (BP4). In summary, this variant meets criteria to be classified as likely benign for cardiomyopathy in an autosomal dominant manner. MYH7-specific ACMG/AMP criteria applied (Kelly 2018 PMID:29300372): BS1, BP4

Comment:

Ala1637Thr in exon34 of MYH7: This variant is not expected to have clinical sign ificance due to a lack of evolutionary conservation of the affected amino acid ( of note, 5 mammalian species have a threonine (Thr) at this position despite hig h nearby amino acid conservation). In addition, this variant was predicted to be benign using a computational tool clinically validated by our laboratory. This tool's benign prediction is estimated to be correct 89% of the time (Jordan 2011 ). It has also been identified in 5/10402 African American chromosomes by the Ex ome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs14112 2361).

Comment:

The MYH7 Ala1637Thr variant has been previously reported in a HCM patient (Millat G et al., 2010), but has also been identified in a healthy control (Kapplinger JD, et al., 2014). We identified this variant in a proband diagnosed with idiopathic ventricular fibrillation, who has a family history of sudden death. The variant is present in the Exome Aggregation Consortium dataset (http://exac.broadinstitute.org/) at an allele frequency >0.000075, which is higher then expected for an inherited arrhythmia syndrome. In silico tools SIFT, PolyPhen2 and Polyphen-HCM predict this variant to be benign, however MutationTaster predicts this variant to be disease-causing. In summary, the variant is unlikely to be causing disease as it is present in the general population at an elevated frequency, has been identified in atleast 1 control and 3/4 in silico tools predict the variant to be benign, therefore we classify MYH7 Ala1637Thr as "likely benign".

Comment:

This missense variant replaces alanine with threonine at codon 1637 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 two individuals affected with hypertrophic cardiomyopathy (PMID: 20624503, 27574918). This variant has also been identified in 25/282810 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The elevated variant allele frequency in the general population indicates that this variant may not be disease-causing. However, additional studies are necessary to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

Comment:

This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 1637 of the MYH7 protein (p.Ala1637Thr). This variant is present in population databases (rs141122361, gnomAD 0.09%). This missense change has been observed in individual(s) with hypertrophic cardiomyopathy (PMID: 20624503, 23782526, 27574918). ClinVar contains an entry for this variant (Variation ID: 43044). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The threonine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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:

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:

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
Spectrum of Mutations in Hypertrophic Cardiomyopathy Genes Among Tunisian Patients.	Jaafar N	Genetic testing and molecular biomarkers	2016	PMID: 27574918
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
Distinguishing hypertrophic cardiomyopathy-associated mutations from background genetic noise.	Kapplinger JD	Journal of cardiovascular translational research	2014	PMID: 24510615
Somatic MYH7, MYBPC3, TPM1, TNNT2 and TNNI3 mutations in sporadic hypertrophic cardiomyopathy.	Núñez L	Circulation journal : official journal of the Japanese Circulation Society	2013	PMID: 23782526
Roadmap to determine the point mutations involved in cardiomyopathy disorder: a Bayesian approach.	Kumar A	Gene	2013	PMID: 23403236
Burden of rare sarcomere gene variants in the Framingham and Jackson Heart Study cohorts.	Bick AG	American journal of human genetics	2012	PMID: 22958901
Prevalence and spectrum of mutations in a cohort of 192 unrelated patients with hypertrophic cardiomyopathy.	Millat G	European journal of medical genetics	2010	PMID: 20624503
https://erepo.clinicalgenome.org/evrepo/ui/interpretation/ccdf0002-db7d-4fd8-989a-73c765052ee9	-	-	-	-

Text-mined citations for rs141122361 ...

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 Oct 27, 2024

ClinVar Genomic variation as it relates to human health

NM_000257.4(MYH7):c.4909G>A (p.Ala1637Thr)

Variant Details

Genes

Conditions - Germline

Submissions - Germline

Germline Functional Evidence

Citations for germline classification of this variant

Text-mined citations for rs141122361 ...