Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001301248 | SCV001490412 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2023-05-15 | criteria provided, single submitter | clinical testing | |
Breda Genetics srl | RCV002286577 | SCV002576525 | uncertain significance | Myofibrillar myopathy 5 | 2022-08-22 | criteria provided, single submitter | clinical testing | The variant c.1840G>A (p.Ala614Thr) in the FLNC gene is reported with uncertain significance for FLNC-associated diseases in ClinVar (Variation ID: 1004530) and as uncertain in the Global Variome shared LOVD database v.3.0 (genomic variant: #0000610716). The variant is reported with an estimated allele frequency of 0.00002005 in gnomAD exomes with no homozygous individuals reported. The nucleotide position is conserved across 35 mammalian species (GERP RS: 4.31). In silico analysis indicates that the variant might be damaging. |
Ambry Genetics | RCV003284151 | SCV004004580 | uncertain significance | Cardiovascular phenotype | 2023-03-16 | criteria provided, single submitter | clinical testing | The p.A614T variant (also known as c.1840G>A), located in coding exon 12 of the FLNC gene, results from a G to A substitution at nucleotide position 1840. The alanine at codon 614 is replaced by threonine, an amino acid with similar properties. This amino acid position is conserved. 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. |