ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.1119G>A (p.Ala373=) (rs572672362)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Inherited Cardiomyopathy Variant Curation Expert Panel, RCV000758025 SCV000564497 benign Cardiomyopathy 2016-12-15 reviewed by expert panel curation The filtering allele frequency of the c.1119G>A (p.Ala373=) variant in the MYH7 gene is 0.12% (21/11578) of Latino 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).
GeneDx RCV000127022 SCV000170555 benign not specified 2014-03-12 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.
Illumina Clinical Services Laboratory,Illumina RCV000271937 SCV000386245 likely benign Myopathy, distal, 1 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000329304 SCV000386246 likely benign Myosin storage myopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000367591 SCV000386247 likely benign Left ventricular noncompaction cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000275351 SCV000386248 likely benign Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000332655 SCV000386249 likely benign Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000389589 SCV000386250 likely benign Scapuloperoneal myopathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000332655 SCV000557954 benign Hypertrophic cardiomyopathy 2017-10-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV000617831 SCV000735503 likely benign Cardiovascular phenotype 2016-08-23 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign

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