Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Biesecker Lab/Clinical Genomics Section, |
RCV000171850 | SCV000050871 | uncertain significance | not provided | 2013-06-24 | criteria provided, single submitter | research | |
Gene |
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, |
RCV000769375 | SCV000900765 | uncertain significance | Cardiomyopathy | 2016-07-13 | criteria provided, single submitter | clinical testing | |
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 | |
Ce |
RCV000171850 | SCV004134535 | uncertain significance | not provided | 2022-07-01 | criteria provided, single submitter | clinical testing | ABCC9: PP2 |