ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.2358G>T (p.Thr786=) (rs36211714)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000250517 SCV000320213 likely benign Cardiovascular phenotype 2015-08-31 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign,Subpopulation frequency in support of benign classification
ClinGen Inherited Cardiomyopathy Variant Curation Expert Panel, RCV000758028 SCV000564492 benign Cardiomyopathy 2016-12-15 reviewed by expert panel curation The filtering allele frequency of the c.2358G>T (p.Thr786=) variant in the MYH7 gene is 0.15% (33/16512) 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; PMID:29300372).
GeneDx RCV000151272 SCV000208425 benign not specified 2014-08-26 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 RCV000629127 SCV000750043 benign Hypertrophic cardiomyopathy 2017-10-23 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000151272 SCV000199196 likely benign not specified 2014-07-16 criteria provided, single submitter clinical testing Thr786Thr in exon 21 of MYH7: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. It has been identified in 2.2% (4/186) of Finn ish chromosomes by the 1000 Genomes Project (dbSNP rs36211714).

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