ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.3156G>A (p.Lys1052=)

gnomAD frequency: 0.00063  dbSNP: rs138294643
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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 RCV000758070 SCV000564485 benign Cardiomyopathy 2016-12-15 reviewed by expert panel curation The filtering allele frequency of the c.3156G>A (p.Lys1052=) variant in the MYH7 gene is 0.14% (21/10404) 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).
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000035842 SCV000059493 likely benign not specified 2015-03-21 criteria provided, single submitter clinical testing p.Lys1052Lys in exon 25 of MYH7: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 0.2% (21/10404) o f African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.bro adinstitute.org; dbSNP rs138294643).
Illumina Laboratory Services, Illumina RCV000374258 SCV000386064 likely benign Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000282026 SCV000386065 likely benign MYH7-related skeletal myopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000334767 SCV000386066 likely benign Left ventricular noncompaction cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000372940 SCV000386067 likely benign Scapuloperoneal myopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000285395 SCV000386068 likely benign Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV003320063 SCV000386069 likely benign Myosin storage myopathy 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000285395 SCV000623689 benign Hypertrophic cardiomyopathy 2024-01-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV000619565 SCV000739956 likely benign Cardiovascular phenotype 2016-06-21 criteria provided, single submitter clinical testing 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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000758070 SCV000901923 likely benign Cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000758070 SCV001358498 benign Cardiomyopathy 2018-11-27 criteria provided, single submitter clinical testing
GeneDx RCV001711098 SCV001940823 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV000758070 SCV004815026 benign Cardiomyopathy 2024-02-05 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000035842 SCV001925352 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001711098 SCV001957909 likely benign not provided no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004541076 SCV004777510 likely benign MYH7-related disorder 2020-02-26 no assertion criteria provided clinical testing 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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