ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.977G>A (p.Arg326Gln) (rs34580776)

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Total submissions: 14
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000250801 SCV000317754 benign Cardiovascular phenotype 2017-08-04 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000190557 SCV000051567 benign Hypertrophic cardiomyopathy 2013-06-24 criteria provided, single submitter research
Blueprint Genetics RCV000157304 SCV000207036 likely benign Primary familial hypertrophic cardiomyopathy 2014-05-16 no assertion criteria provided clinical testing
Blueprint Genetics RCV000157305 SCV000207037 likely benign Primary dilated cardiomyopathy 2014-05-16 no assertion criteria provided clinical testing
Color RCV000776079 SCV000910815 benign Cardiomyopathy 2018-03-05 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000613127 SCV000744858 benign Familial hypertrophic cardiomyopathy 4 2015-09-21 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000613127 SCV000733056 benign Familial hypertrophic cardiomyopathy 4 no assertion criteria provided clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000238837 SCV000296898 benign Dilated cardiomyopathy 1A 2015-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000035689 SCV000170458 benign not specified 2012-06-12 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.
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000613127 SCV000743565 benign Familial hypertrophic cardiomyopathy 4 2014-10-09 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000586999 SCV000696336 benign not provided 2016-06-06 criteria provided, single submitter clinical testing Variant summary: The MYBPC3 c.977G>A (p.Arg326Gln) variant involves the alteration of a conserved nucleotide. 2/4 in silico tools predict a benign outcome (SNPs&GO not captured due to low reliability index). This variant was found in 521/94034 control chromosomes (3 homozygotes), predominantly observed in the European (Finnish) subpopulation at a frequency of 0.015543 (77/4954). This frequency is about 16 times the estimated maximal expected allele frequency of a pathogenic MYBPC3 variant (0.0010005), suggesting this is likely a benign polymorphism found primarily in the populations of European (Finnish) origin. In addition, the variant was found to co-occur with a pathogenic MYBPC3 variant (Gln1233Ter) in two individuals (Ingles_JMG_2005 and internal LCA data), and was also found in an unaffected sister of an HCM patient (Jaaskelainen_JMM_2002). Furthermore, multiple clinical diagnostic laboratories/reputable databases classified this variant as benign. Taken together, this variant is classified as benign.
Invitae RCV000190557 SCV000252659 benign Hypertrophic cardiomyopathy 2018-01-08 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000035689 SCV000059340 benign not specified 2010-07-08 criteria provided, single submitter clinical testing The Arg326Gln variant is thought to be a common variant found in over 5% of indi viduals from certain populations (Jaaskelainen et al. 2002, dbSNP rs34580786). T herefore, it is highly unlikely that this variant is disease-causing.
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000035689 SCV000747987 likely benign not specified 2016-10-26 criteria provided, single submitter clinical testing

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