Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000150171 | SCV000197079 | uncertain significance | not specified | 2014-06-27 | criteria provided, single submitter | clinical testing | The -4C>T variant in BAG3 has not been previously reported in individuals with c ardiomyopathy. Data from large population studies is insufficient to assess the frequency of this variant. This variant is located in the 5' UTR and is part of the translation initiation (Kozak) sequence but its effect on translation is unk nown. In summary, the clinical significance of the -4C>T variant is uncertain. |
Gene |
RCV000766350 | SCV000589950 | likely benign | not provided | 2021-06-07 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV001104466 | SCV001261333 | likely benign | Myofibrillar myopathy 6 | 2018-01-13 | 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 and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease. |
Illumina Laboratory Services, |
RCV001104467 | SCV001261334 | uncertain significance | Dilated cardiomyopathy 1HH | 2018-01-13 | 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. |
Ambry Genetics | RCV002336294 | SCV002642392 | uncertain significance | Cardiovascular phenotype | 2022-04-27 | criteria provided, single submitter | clinical testing | The c.-4C>T variant is located in the 5' untranslated region (5’ UTR) of the BAG3 gene. This variant results from a C to T substitution 4 nucleotides upstream from the first translated codon. This nucleotide position is well conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |