ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.327C>T (p.Tyr109=) (rs36211408)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000619846 SCV000736795 likely benign Cardiovascular phenotype 2016-11-22 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
ClinGen Inherited Cardiomyopathy Variant Curation Expert Panel, RCV000758060 SCV000564504 benign Cardiomyopathy 2016-12-15 reviewed by expert panel curation The filtering allele frequency of the c.327C>T (p.Tyr109=) silent variant in the MYH7 gene is 0.13% (31/16512) of South Asian 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, BP7; PMID:29300372).
Color RCV000758060 SCV000905092 benign Cardiomyopathy 2018-10-16 criteria provided, single submitter clinical testing
GeneDx RCV000035845 SCV000516733 benign not specified 2015-07-08 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 RCV000205852 SCV000259414 likely benign Hypertrophic cardiomyopathy 2017-09-26 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000035845 SCV000059496 likely benign not specified 2015-01-29 criteria provided, single submitter clinical testing p.Tyr109Tyr in exon 4 of MYH7: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located nea r a splice junction. It has been identified in 0.2% (31/16512) of South Asian ch romosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute. org; dbSNP rs36211408).

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.