Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001315777 | SCV001506369 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2024-01-19 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002499610 | SCV002777451 | uncertain significance | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26 | 2021-09-01 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV003145558 | SCV003833170 | uncertain significance | not provided | 2019-06-27 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004034369 | SCV005017679 | uncertain significance | Cardiovascular phenotype | 2023-11-16 | criteria provided, single submitter | clinical testing | The p.G771S variant (also known as c.2311G>A), located in coding exon 15 of the FLNC gene, results from a G to A substitution at nucleotide position 2311. The glycine at codon 771 is replaced by serine, an amino acid with similar properties. This variant has been detected once in a cohort with proximal muscle weakness and/or elevated serum creatine kinase (Töpf A et al. Genet Med, 2020 Sep;22:1478-1488). 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. |