ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.4005G>A (p.Ser1335=) (rs144465613)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Inherited Cardiomyopathy Variant Curation Expert Panel, RCV000758055 SCV000564480 benign Cardiomyopathy 2016-12-15 reviewed by expert panel curation The filtering allele frequency of the c.4005G>A (p.Ser1335=) variant in the MYH7 gene is 0.19% (140/64766) of European chromosomes by the Exome Aggregation Consortium (, 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).
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000035882 SCV000059533 likely benign not specified 2015-08-21 criteria provided, single submitter clinical testing p.Ser1335Ser in exon 30 of MYH7: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 0.2% (140/64766) of European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.b; dbSNP rs144465613).
GeneDx RCV000035882 SCV000170531 benign not specified 2015-01-05 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 RCV000476016 SCV000557950 benign Hypertrophic cardiomyopathy 2017-10-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV000621742 SCV000740106 likely benign Cardiovascular phenotype 2017-01-05 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign,In silico models in agreement (benign),Subpopulation frequency in support of benign classification

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