Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000522249 | SCV000621851 | uncertain significance | not provided | 2017-10-27 | criteria provided, single submitter | clinical testing | The R1474W variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The R1474W variant is observed in 1/9,826 (0.01%) alleles from individuals of Ashkenazi Jewish background (Lek et al., 2016). This variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved in mammals. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. |
Invitae | RCV000705455 | SCV000834453 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2023-11-22 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000522249 | SCV001155272 | uncertain significance | not provided | 2016-05-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002329244 | SCV002628125 | uncertain significance | Cardiovascular phenotype | 2021-03-02 | criteria provided, single submitter | clinical testing | The p.R1474W variant (also known as c.4420C>T), located in coding exon 25 of the FLNC gene, results from a C to T substitution at nucleotide position 4420. The arginine at codon 1474 is replaced by tryptophan, an amino acid with dissimilar properties. This amino acid position is not 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. |
Revvity Omics, |
RCV000522249 | SCV004234804 | uncertain significance | not provided | 2023-07-17 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV003486857 | SCV004240650 | uncertain significance | Cardiomyopathy | 2023-05-03 | criteria provided, single submitter | clinical testing |