ClinVar Miner

Submissions for variant NM_016599.5(MYOZ2):c.237A>G (p.Ala79=)

gnomAD frequency: 0.00952  dbSNP: rs17851524
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Total submissions: 14
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000039004 SCV000062682 benign not specified 2011-09-08 criteria provided, single submitter clinical testing
GeneDx RCV000039004 SCV000170603 benign not specified 2014-03-20 criteria provided, single submitter clinical testing 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.
Invitae RCV001085057 SCV000259890 benign Hypertrophic cardiomyopathy 2024-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000243425 SCV000318162 benign Cardiovascular phenotype 2015-11-13 criteria provided, single submitter clinical testing This alteration is classified as 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000024481 SCV000699422 benign not provided 2017-08-25 criteria provided, single submitter clinical testing Variant summary: The MYOZ2 c.237A>G (p.Ala79Ala) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. Mutation taster predicts a damaging outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. ESE finder predicts that this variant may not affect binding of ESE sites. However, these predictions have yet to be confirmed by functional studies. This variant was found in 1202/121194 control chromosomes (9 homozygotes) from ExAC, predominantly observed in the European (Non-Finnish) subpopulation at a frequency of 0.014932 (995/66636). This frequency is about 597 times the estimated maximal expected allele frequency of a pathogenic MYOZ2 variant (0.000025), suggesting this is likely a benign polymorphism found primarily in the populations of European (Non-Finnish) origin. In addition, multiple clinical diagnostic laboratories in ClinVar have classified this variant as benign. The variant of interest has not, to our knowledge, been reported in affected individuals in literature. Taken together, this variant is classified as benign.
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000604944 SCV000743833 benign Hypertrophic cardiomyopathy 16 2014-10-10 criteria provided, single submitter clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000604944 SCV000745240 benign Hypertrophic cardiomyopathy 16 2015-09-21 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000770198 SCV000901626 benign Cardiomyopathy 2016-03-10 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000604944 SCV001157105 benign Hypertrophic cardiomyopathy 16 2023-11-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000024481 SCV003916914 benign not provided 2023-11-01 criteria provided, single submitter clinical testing MYOZ2: BP4, BP7, BS1, BS2
Leiden Muscular Dystrophy (MYOZ2) RCV000024481 SCV000045785 not provided not provided 2012-04-20 no assertion provided curation
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000604944 SCV000734311 likely benign Hypertrophic cardiomyopathy 16 no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000039004 SCV001919025 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000039004 SCV001954300 benign not specified no assertion criteria provided clinical testing

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