ClinVar Miner

Submissions for variant NM_020297.4(ABCC9):c.3594G>A (p.Met1198Ile)

gnomAD frequency: 0.00003  dbSNP: rs199900459
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
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000171850 SCV000050871 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
GeneDx RCV000171850 SCV000536154 uncertain significance not provided 2019-04-11 criteria provided, single submitter clinical testing Has not been reported in association with cardiac disease to our knowledge, although it has been reported in a cohort that was not selected for cardiomyopathy, arrhythmia, or family history of sudden cardiac death who underwent exome sequencing (Ng et al., 2013); Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 191584; Landrum et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 23861362)
Invitae RCV000465122 SCV000551687 uncertain significance Dilated cardiomyopathy 1O 2024-01-24 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 1198 of the ABCC9 protein (p.Met1198Ile). This variant is present in population databases (rs199900459, gnomAD 0.01%). This missense change has been observed in individual(s) with left ventricular non-compaction and Rubinstein-Taybi syndrome (PMID: 25979592). ClinVar contains an entry for this variant (Variation ID: 191584). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt ABCC9 protein function with a negative predictive value of 95%. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000769375 SCV000900765 uncertain significance Cardiomyopathy 2016-07-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002485098 SCV002776673 uncertain significance Hypertrichotic osteochondrodysplasia Cantu type; Dilated cardiomyopathy 1O; Atrial fibrillation, familial, 12; Intellectual disability and myopathy syndrome 2021-10-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000171850 SCV004134535 uncertain significance not provided 2022-07-01 criteria provided, single submitter clinical testing ABCC9: PP2

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.