Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000527260 | SCV000650905 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003144346 | SCV001962094 | likely benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | FLNC: BS1 |
Ambry Genetics | RCV002395437 | SCV002701088 | uncertain significance | Cardiovascular phenotype | 2023-08-07 | criteria provided, single submitter | clinical testing | The p.K492E variant (also known as c.1474A>G), located in coding exon 9 of the FLNC gene, results from an A to G substitution at nucleotide position 1474. The lysine at codon 492 is replaced by glutamic acid, an amino acid with similar properties. This variant has been detected in patients from hypertrophic and dilated cardiomyopathy cohorts with limited detail, and in cohorts not selected for cardiovascular diagnoses including in a Rett syndrome cohort and a frontotemporal dementia cohort (Janssens J et al. Acta Neuropathol Commun. 2015 Nov;3:68; Gómez J et al. Circ Cardiovasc Genet, 2017 Apr;10; Sajan SA et al. Genet. Med., 2017 01;19:13-19; van Lint FHM et al. Neth Heart J, 2019 Jun;27:304-309). This amino acid position is 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. |
Revvity Omics, |
RCV003144346 | SCV003833153 | uncertain significance | not provided | 2023-11-16 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV003150271 | SCV003838347 | likely benign | Cardiomyopathy | 2021-09-21 | criteria provided, single submitter | clinical testing |