ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.1191G>A (p.Lys397=) (rs139506719)

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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute RCV000584781 SCV000692490 benign Familial hypertrophic cardiomyopathy 1 2016-11-18 criteria provided, single submitter research This synonymous variant MYH7 (Lys397=) was identified in a HCM case. However, a known pathogenic variant in a different gene was identified and shown to segregate with disease. Furthermore this variant has been identified >20 times in the Exome Aggregation Consortium dataset (MAF=0.00019; http://exac.broadinstitute.org/). Therefore, we classify this variant as "benign".
Ambry Genetics RCV000618918 SCV000735681 likely benign Cardiovascular phenotype 2017-02-08 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Color RCV000772167 SCV000905284 likely benign Cardiomyopathy 2018-10-16 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725616 SCV000338187 uncertain significance not provided 2015-12-16 criteria provided, single submitter clinical testing
GeneDx RCV000035705 SCV000513797 benign not specified 2015-03-14 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.
Illumina Clinical Services Laboratory,Illumina RCV000347165 SCV000386215 likely benign Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000398355 SCV000386216 likely benign Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000312213 SCV000386217 likely benign Left ventricular noncompaction cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000350659 SCV000386218 likely benign Scapuloperoneal myopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000400109 SCV000386219 likely benign Myosin storage myopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000297044 SCV000386220 likely benign Myopathy, distal, 1 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000347165 SCV000557960 likely benign Hypertrophic cardiomyopathy 2017-10-26 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000035705 SCV000059356 likely benign not specified 2010-07-30 criteria provided, single submitter clinical testing

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