ClinVar Miner

Submissions for variant NM_001103.3(ACTN2):c.2367+8A>G (rs112714025)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000150152 SCV000197036 likely benign not specified 2017-08-10 criteria provided, single submitter clinical testing c.2367+8A>G in intron 19 of ACTN2: This variant is not expected to have clinical significance because it is not located within the splice consensus sequence. It has been identified in 0.12% (29/24040) of African chromosomes by the Genome Ag gregation Database (gnomAD, http://gnomad.broadinstitute.org/; dbSNP rs112714025 ).
Invitae RCV000228201 SCV000285869 benign Dilated cardiomyopathy 1AA; Primary familial hypertrophic cardiomyopathy 2020-11-21 criteria provided, single submitter clinical testing
GeneDx RCV000150152 SCV000511972 benign not specified 2015-06-29 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.
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000768746 SCV000900116 likely benign Cardiomyopathy 2017-09-22 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001097374 SCV001253651 uncertain significance Dilated cardiomyopathy 1AA 2018-01-12 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.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.