Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000367717 | SCV000467639 | uncertain significance | Hypertrophic cardiomyopathy 6 | 2018-01-12 | criteria provided, single submitter | clinical testing | This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease. |
Illumina Laboratory Services, |
RCV000328054 | SCV000467641 | uncertain significance | Wolff-Parkinson-White pattern | 2018-01-12 | criteria provided, single submitter | clinical testing | This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease. |
Agnes Ginges Centre for Molecular Cardiology, |
RCV000367717 | SCV000996336 | uncertain significance | Hypertrophic cardiomyopathy 6 | 2017-03-17 | criteria provided, single submitter | research | The PRKAG2 Gly145Arg variant is absent from the Exome Aggregation Consortium dataset (http://exac.broadinstitute.org/) and is present at a low frequency in the Genome Aggregation Database (MAF=0.0000079, http://gnomad.broadinstitute.org/). We identified this variant in a patient with a HCM and ECG highly suggestive of Wolff-Parkinson-White (WPW) Syndrome. The variant was the variant segregated to the patient first degree relative who has mild concentric hypertrophy. Computational tools PolyPhen-2 and MutationTaster predict this variant to be deleterious, however SIFT predicts this variant to be "tolerated". In summary, the variant is rare in the general population, however there is no further information available at this time to classify the variant as either pathogenic or benign, therefore we classify PRKAG2 Gly145Arg as a variant of "uncertain significance". |
Labcorp Genetics |
RCV002524527 | SCV003506594 | likely benign | Lethal congenital glycogen storage disease of heart | 2024-01-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003168557 | SCV003864601 | uncertain significance | Cardiovascular phenotype | 2022-11-27 | criteria provided, single submitter | clinical testing | The p.G145R variant (also known as c.433G>A), located in coding exon 3 of the PRKAG2 gene, results from a G to A substitution at nucleotide position 433. The glycine at codon 145 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |