Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000786197 | SCV000208929 | likely benign | not provided | 2020-12-15 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001088403 | SCV000290216 | likely benign | Lethal congenital glycogen storage disease of heart | 2025-01-22 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000622232 | SCV000739920 | likely benign | Cardiovascular phenotype | 2018-04-24 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
CHEO Genetics Diagnostic Laboratory, |
RCV001170703 | SCV001333297 | benign | Cardiomyopathy | 2019-02-28 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001170703 | SCV001339602 | likely benign | Cardiomyopathy | 2019-08-22 | criteria provided, single submitter | clinical testing | This missense variant replaces alanine with threonine at codon 238 of the PRKAG2 protein. Computational prediction tools and conservation analyses are inconclusive regarding the impact of this variant on protein structure and function. Splice site prediction tools suggest that this variant may not impact RNA splicing. To our knowledge, functional studies have not been performed for this variant. This variant has not been reported in individuals affected with cardiovascular disorders in the literature. This variant has been identified in 27/192420 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance. |
Stanford Center for Inherited Cardiovascular Disease, |
RCV000786197 | SCV000924907 | uncertain significance | not provided | 2016-06-21 | no assertion criteria provided | provider interpretation | Given the lack of case data and relatively high frequency in ethnicity-matched controls we consider this variant to be uncertain significance and we do not feel it is suitable for assessing risk in healthy relatives ("predictive genetic testing"). The variant has not been reported in the literature. We have seen this variant in an individual with LVNC. The Invitae report notes: The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and threonine. Please note that this site is covered in fewer than 80% of the individuals in Exac, and may represent a low quality site. The variant was reported online in 12 of 40,075 (0.2%) individuals in the Exome Aggregation Consortium dataset (http://exac.broadinstitute.org/), which currently includes variant calls on ~64,000 individuals of European, African, Latino and Asian descent (as of 4/2016). Specifically, the variant was observed in 12 of 2461 (0.4%) people of African descent. The phenotype of those individuals is not publicly available. The dataset is comprised of multiple cohorts, some of which were recruited from the general population, others were enriched for common cardiovascular disease |
Prevention |
RCV004734751 | SCV005350699 | likely benign | PRKAG2-related disorder | 2024-08-12 | no assertion criteria provided | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |