Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000649074 | SCV000770899 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2023-09-03 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001766401 | SCV001990095 | uncertain significance | not provided | 2019-05-22 | criteria provided, single submitter | clinical testing | Reported in a patient with severe DCM who also harbors a 1p36 chromosomal deletion (Herkert et al., 2018); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 29517769) |
Ambry Genetics | RCV003372788 | SCV004095988 | uncertain significance | Cardiovascular phenotype | 2023-08-03 | criteria provided, single submitter | clinical testing | The p.R558H variant (also known as c.1673G>A), located in coding exon 10 of the FLNC gene, results from a G to A substitution at nucleotide position 1673. The arginine at codon 558 is replaced by histidine, an amino acid with highly similar properties. This variant has been detected in a case with dilated cardiomyopathy and congenital heart defects who also had a 1p36 deletion (Herkert JC et al. Genet Med, 2018 Nov;20:1374-1386). This amino acid position is highly 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. |