ClinVar Miner

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

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
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).
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.
Invitae RCV001084546 SCV000285860 benign Dilated cardiomyopathy 1AA; Primary familial hypertrophic cardiomyopathy 2020-12-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000608256 SCV000355930 uncertain significance Dilated cardiomyopathy 1AA 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Ambry Genetics RCV000619815 SCV000735524 likely benign Cardiovascular phenotype 2016-05-18 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
CeGaT Praxis fuer Humangenetik Tuebingen RCV000227025 SCV001147738 likely benign not provided 2018-12-01 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV001170472 SCV001333052 benign Cardiomyopathy 2018-07-30 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000608256 SCV000734005 likely benign Dilated cardiomyopathy 1AA no assertion criteria provided clinical testing

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