Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000688063 | SCV000815660 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2023-12-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001592869 | SCV001826691 | likely benign | not provided | 2020-02-19 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 28356264, 26688388) |
Ai |
RCV001592869 | SCV002503369 | uncertain significance | not provided | 2020-06-04 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002352127 | SCV002661323 | uncertain significance | Cardiovascular phenotype | 2023-01-19 | criteria provided, single submitter | clinical testing | The p.R2045Q variant (also known as c.6134G>A), located in coding exon 37 of the FLNC gene, results from a G to A substitution at nucleotide position 6134. The arginine at codon 2045 is replaced by glutamine, an amino acid with highly similar properties. This variant has been detected in hypertrophic cardiomyopathy and dilated cardiomyopathy cohorts; and in some cases, it co-occurred with other variants in cardiomyopathy-related genes, and, in one family, did not appear to be segregating with disease (Chanavat V et al. Clin. Chim. Acta, 2016 Jan;453:80-5; Gómez J et al. Circ Cardiovasc Genet, 2017 Apr;10; Gómez J et al. Circ Cardiovasc Genet, 2017 Apr;10; Gao J et al. Int J Mol Sci, 2020 Apr;21). This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Clinical Genetics, |
RCV001592869 | SCV001924558 | uncertain significance | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001592869 | SCV001976253 | uncertain significance | not provided | no assertion criteria provided | clinical testing |