ClinVar Miner

Submissions for variant NM_001103.3(ACTN2):c.1452G>A (p.Gln484=) (rs200529923)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000619815 SCV000735524 likely benign Cardiovascular phenotype 2016-05-18 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000608256 SCV000734005 likely benign Dilated cardiomyopathy 1AA no assertion criteria provided clinical testing
GeneDx RCV000036878 SCV000166855 benign not specified 2013-09-13 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 RCV000259373 SCV000355929 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000323960 SCV000355930 uncertain significance Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000227025 SCV000285860 benign Dilated cardiomyopathy 1AA; Primary familial hypertrophic cardiomyopathy 2017-12-29 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000036878 SCV000060533 likely benign not specified 2015-07-02 criteria provided, single submitter clinical testing p.Gln484Gln in exon 13 of ACTN2: 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 0.1% (66/66290) o f European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.br oadinstitute.org/; dbSNP rs200529923).

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