ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.2162+4G>A

gnomAD frequency: 0.00276  dbSNP: rs145738465
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Total submissions: 17
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Cardiomyopathy Variant Curation Expert Panel RCV000758064 SCV000564423 benign Cardiomyopathy 2016-12-15 reviewed by expert panel curation The filtering allele frequency of the c.2162+4G>A variant in the MYH7 gene is 0.75% (93/10406) of African 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). Additionally, computational prediction tools and conservation analysis suggest that this variant may not impact the protein (BP4).
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000035769 SCV000059420 likely benign not specified 2015-03-21 criteria provided, single submitter clinical testing c.2162+4G>A in intron 19 of MYH7: This variant is not expected to have clinical significance because it is not located within the splice consensus sequence and has been identified in 0.9% (93/10406) of African chromosomes by the Exome Aggre gation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs145738465). Thi s cohort included 2 individuals who carried this variant in the homozygous state .
Eurofins Ntd Llc (ga) RCV000035769 SCV000226726 benign not specified 2015-01-23 criteria provided, single submitter clinical testing
Invitae RCV001086617 SCV000252660 benign Hypertrophic cardiomyopathy 2024-01-31 criteria provided, single submitter clinical testing
Preventiongenetics, part of Exact Sciences RCV000035769 SCV000303216 likely benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000621043 SCV000740037 likely benign Cardiovascular phenotype 2019-01-03 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
Athena Diagnostics Inc RCV000712356 SCV000842830 benign not provided 2018-01-26 criteria provided, single submitter clinical testing
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital RCV000035769 SCV000864319 likely benign not specified 2017-10-04 criteria provided, single submitter clinical testing BS1, BP4, BP6; This alteration has an allele frequency that is greater than expected for the associated disease, is predicted to be tolerated by multiple functional prediction tools, and was reported as a benign/likely benign alteration by a reputable source (ClinVar or other correspondence from a clinical testing laboratory).
Color Diagnostics, LLC DBA Color Health RCV000758064 SCV000913768 benign Cardiomyopathy 2018-10-16 criteria provided, single submitter clinical testing
GeneDx RCV000712356 SCV001940821 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002504877 SCV002811171 benign Hypertrophic cardiomyopathy 1; Myopathy, myosin storage, autosomal recessive; Myosin storage myopathy; Congenital myopathy with fiber type disproportion; Dilated cardiomyopathy 1S; MYH7-related skeletal myopathy 2021-07-27 criteria provided, single submitter clinical testing
Cohesion Phenomics RCV001086617 SCV003803033 benign Hypertrophic cardiomyopathy 2022-10-10 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000712356 SCV001744591 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000035769 SCV001925924 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000035769 SCV001930480 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000035769 SCV001964424 benign not specified no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000712356 SCV002036504 likely benign not provided no assertion criteria provided clinical testing

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