ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.2349C>T (p.Arg783=) (rs139882431)

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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000622074 SCV000736799 likely benign Cardiovascular phenotype 2017-03-28 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
CeGaT Praxis fuer Humangenetik Tuebingen RCV000590341 SCV000780472 likely benign not provided 2018-02-28 criteria provided, single submitter clinical testing
Color RCV000777761 SCV000913727 likely benign Cardiomyopathy 2018-05-29 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000359211 SCV000386161 likely benign Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000264496 SCV000386162 likely benign Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000324068 SCV000386163 likely benign Scapuloperoneal myopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000360132 SCV000386164 likely benign Left ventricular noncompaction cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000270322 SCV000386165 likely benign Myopathy, distal, 1 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000325337 SCV000386166 likely benign Myosin storage myopathy 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000590341 SCV000696341 uncertain significance not provided 2017-06-29 criteria provided, single submitter clinical testing Variant summary: The MYH7 c.2349C>T (p.Arg783Arg) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a benign outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. ESE finder predicts that this variant may affect multiple ESE sites. However, these predictions have yet to be confirmed by functional studies. This variant was found in 41/121378 control chromosomes at a frequency of 0.0003378, which does not exceed the estimated maximal expected allele frequency of a pathogenic MYH7 variant (0.0010005). This variant has been reported in patients in the literature without strong evidence supporting causality. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as likely benign. Taken together, this variant is classified as VUS-possibly benign.
Invitae RCV000359211 SCV000557946 likely benign Hypertrophic cardiomyopathy 2018-01-26 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000035785 SCV000059436 likely benign not specified 2016-08-09 criteria provided, single submitter clinical testing p.Arg783Arg in exon 21 of MYH7: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 38/66720 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitu te.org;dbSNP rs139882431).
PreventionGenetics RCV000035785 SCV000303217 likely benign not specified criteria provided, single submitter clinical testing

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