Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001906579 | SCV002171632 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2023-12-11 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV003146336 | SCV003833149 | uncertain significance | not provided | 2022-03-30 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003355631 | SCV004054515 | uncertain significance | Cardiovascular phenotype | 2023-08-21 | criteria provided, single submitter | clinical testing | The p.E1571K variant (also known as c.4711G>A), located in coding exon 27 of the FLNC gene, results from a G to A substitution at nucleotide position 4711. The glutamic acid at codon 1571 is replaced by lysine, an amino acid with similar properties. This variant has been detected in a frontotemporal dementia cohort (Janssens J et al. Acta Neuropathol Commun, 2015 Nov;3:68). This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |