ClinVar Miner

Submissions for variant NM_005691.3(ABCC9):c.2238-1G>A (rs141281214)

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
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000172511 SCV000051512 likely benign not provided 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000150119 SCV000196949 uncertain significance not specified 2015-03-06 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The c.2238-1G>A var iant in ABCC9 has been identified by our laboratory in two individuals with DCM, one of whom carried a second pathogenic variant in another gene. It has also be en identified in 0.7% (118/16384) of South Asian chromosomes by the Exome Aggreg ation Consortium (ExAC,; dbSNP rs141281214). This frequency raises doubt as to whether this variant can cause a dominant disease. However, this variant is expected to abolish the 3? splice site of exon 18 and create a novel spice site 3 bases further downstream, which would result in an i n-frame deletion of one amino acid. In summary, additional information is needed to fully assess the clinical significance of the c.2238-1G>A variant.
GeneDx RCV000150119 SCV000235659 likely benign not specified 2017-12-26 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 RCV000172511 SCV000639226 benign not provided 2019-03-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV000622123 SCV000736304 uncertain significance Cardiovascular phenotype 2016-09-20 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence

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.