ClinVar Miner

Submissions for variant NM_020297.4(ABCC9):c.817-18dup

dbSNP: rs199947733
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001175594 SCV001339241 benign not specified 2020-03-02 criteria provided, single submitter clinical testing Variant summary: ABCC9 c.817-18dupT alters a non-conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. 4/4 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 0.039 in 103156 control chromosomes in the gnomAD database, including 13 homozygotes. The observed variant frequency is approximately 1555-fold the estimated maximal expected allele frequency for a pathogenic variant in ABCC9 causing Cardiomyopathy phenotype (2.5e-05), strongly suggesting that the variant is benign. To our knowledge, no occurrence of c.817-18dupT in individuals affected with Cardiomyopathy and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV002068136 SCV002368653 benign Dilated cardiomyopathy 1O 2024-01-31 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001175594 SCV001920955 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001175594 SCV001928103 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001175594 SCV001967973 benign not specified no assertion criteria provided clinical testing
Institute of Human Genetics, University of Wuerzburg RCV004596414 SCV005088647 benign Hypertrophic cardiomyopathy 2 no assertion criteria provided clinical testing

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.