Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000528792 | SCV000651065 | benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001545254 | SCV001764551 | likely benign | not provided | 2020-12-02 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 472095; Landrum et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function |
Ambry Genetics | RCV002341425 | SCV002642035 | uncertain significance | Cardiovascular phenotype | 2022-02-01 | criteria provided, single submitter | clinical testing | The p.E1741K variant (also known as c.5221G>A), located in coding exon 31 of the FLNC gene, results from a G to A substitution at nucleotide position 5221. The glutamic acid at codon 1741 is replaced by lysine, an amino acid with similar properties. This amino acid position is poorly 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. |
Revvity Omics, |
RCV001545254 | SCV003833045 | uncertain significance | not provided | 2023-08-29 | criteria provided, single submitter | clinical testing | |
Center for Genomics, |
RCV003224330 | SCV003919981 | uncertain significance | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26 | 2021-03-30 | criteria provided, single submitter | clinical testing | FLNC NM_001458.4 exon 31 p.Glu1741Lys (c.5221G>A): This variant has not been reported in the literature and is present in 0.04% (7/14872) of European alleles in the Genome Aggregation Database (http://gnomad-old.broadinstitute.org/variant/7-128490051-G-A). This variant is present in ClinVar (Variation ID:472095). Evolutionary conservation and computational predictive tools suggest that this variant may not impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain. |