Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000548109 | SCV000651064 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001755876 | SCV001995310 | uncertain significance | not provided | 2019-12-06 | 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 but additional evidence is not available (ClinVar Variant ID# 472094; 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 | RCV002350342 | SCV002646677 | uncertain significance | Cardiovascular phenotype | 2023-08-11 | criteria provided, single submitter | clinical testing | The p.P1739L variant (also known as c.5216C>T), located in coding exon 31 of the FLNC gene, results from a C to T substitution at nucleotide position 5216. The proline at codon 1739 is replaced by leucine, an amino acid with similar properties. 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. |
Fulgent Genetics, |
RCV002483475 | SCV002786006 | uncertain significance | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26 | 2021-08-23 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV001755876 | SCV003831433 | uncertain significance | not provided | 2022-12-28 | criteria provided, single submitter | clinical testing | |
Center for Genomics, |
RCV002483475 | SCV003919980 | 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.Pro1739Leu (c.5216C<T): This variant has not been reported in the literature but is present in 0.005% (6/109016) of European alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/7-128490046-C-T). This variant is present in ClinVar (Variation ID:472094). 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. |