ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.3153G>A (p.Ala1051=)

gnomAD frequency: 0.00505  dbSNP: rs45540831
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Total submissions: 24
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Cardiomyopathy Variant Curation Expert Panel RCV000758077 SCV000564486 benign Cardiomyopathy 2016-12-15 reviewed by expert panel curation The filtering allele frequency of the c.3153G>A (p.Ala1051=) variant in the MYH7 gene is 0.68% (490/66740) of European 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).
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000035839 SCV000059490 benign not specified 2011-06-08 criteria provided, single submitter clinical testing This variant is considered to be benign because it does not change an amino acid and is frequent in the general population(rs45540831 ; MAF> 1%)
Eurofins Ntd Llc (ga) RCV000035839 SCV000228109 benign not specified 2014-11-14 criteria provided, single submitter clinical testing
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000202765 SCV000257657 benign Hypertrophic cardiomyopathy 1 2015-06-17 criteria provided, single submitter clinical testing
Invitae RCV000226727 SCV000284274 benign Hypertrophic cardiomyopathy 2024-02-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000035839 SCV000303221 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000243522 SCV000318992 benign Cardiovascular phenotype 2015-05-15 criteria provided, single submitter clinical testing This alteration is classified as 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.
Illumina Laboratory Services, Illumina RCV000202765 SCV000386070 likely benign Hypertrophic cardiomyopathy 1 2018-03-06 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
CeGaT Center for Human Genetics Tuebingen RCV000513456 SCV000608694 likely benign not provided 2024-03-01 criteria provided, single submitter clinical testing MYH7: BP4, BP7, BS2
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000513456 SCV000610328 likely benign not provided 2017-05-02 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000035839 SCV000614143 benign not specified 2020-10-07 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000758077 SCV000910660 benign Cardiomyopathy 2018-03-05 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV003320062 SCV001267552 likely benign Myosin storage myopathy 2018-03-06 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Illumina Laboratory Services, Illumina RCV001110154 SCV001267553 benign MYH7-related skeletal myopathy 2018-03-06 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute RCV000035839 SCV001433173 benign not specified 2019-08-27 criteria provided, single submitter clinical testing
GeneDx RCV000513456 SCV001751611 benign not provided 2015-03-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 26332594, 21302287)
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000513456 SCV004562922 benign not provided 2023-10-09 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000035839 SCV000151920 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000035839 SCV001739900 benign not specified no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000513456 SCV001800730 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000035839 SCV001921337 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000035839 SCV001931735 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000035839 SCV001955411 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000035839 SCV001974873 benign not specified no assertion criteria provided clinical testing

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