Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001756857 | SCV001995089 | uncertain significance | not provided | 2019-10-24 | criteria provided, single submitter | clinical testing | In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge |
Invitae | RCV001868454 | SCV002267186 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2023-08-04 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002440856 | SCV002751149 | uncertain significance | Cardiovascular phenotype | 2024-01-05 | criteria provided, single submitter | clinical testing | The p.V960G variant (also known as c.2879T>G), located in coding exon 19 of the FLNC gene, results from a T to G substitution at nucleotide position 2879. The valine at codon 960 is replaced by glycine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |