Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000704195 | SCV000833134 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2023-12-11 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002332499 | SCV002632272 | uncertain significance | Cardiovascular phenotype | 2021-11-29 | criteria provided, single submitter | clinical testing | The p.G1456A variant (also known as c.4367G>C), located in coding exon 25 of the FLNC gene, results from a G to C substitution at nucleotide position 4367. The glycine at codon 1456 is replaced by alanine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species; however, alanine is the reference amino acid in other 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, |
RCV002507233 | SCV002778173 | uncertain significance | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26 | 2022-02-09 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV003144564 | SCV003833195 | uncertain significance | not provided | 2021-06-08 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003420256 | SCV004106392 | uncertain significance | FLNC-related disorder | 2023-08-10 | criteria provided, single submitter | clinical testing | The FLNC c.4367G>C variant is predicted to result in the amino acid substitution p.Gly1456Ala. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.029% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/7-128487829-G-C). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |