Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001051950 | SCV001216135 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2024-01-08 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV002355036 | SCV002658779 | uncertain significance | Cardiovascular phenotype | 2021-08-22 | criteria provided, single submitter | clinical testing | The p.R1999W variant (also known as c.5995C>T), located in coding exon 36 of the FLNC gene, results from a C to T substitution at nucleotide position 5995. The arginine at codon 1999 is replaced by tryptophan, an amino acid with dissimilar properties. This amino acid position is conserved. 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. |
| Prevention |
RCV003396672 | SCV004104562 | uncertain significance | FLNC-related disorder | 2022-09-16 | criteria provided, single submitter | clinical testing | The FLNC c.5995C>T variant is predicted to result in the amino acid substitution p.Arg1999Trp. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0065% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/7-128492797-C-T). Of note, a different missense variant at the same amino acid residue (p.Arg1999Gln) was reported in a patient with dilated cardiomyopathy (Patient N11 in Jaafar. 2016. PubMed ID: 27574918). At this time, the clinical significance of the c.5995C>T (p.Arg1999Trp) variant is uncertain due to the absence of conclusive functional and genetic evidence. |