Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000416057 | SCV000493348 | uncertain significance | not provided | 2016-08-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000649117 | SCV000770942 | uncertain significance | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2023-12-06 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 361 of the FLNC protein (p.Arg361His). This variant is present in population databases (rs752888774, gnomAD 0.008%). This variant has not been reported in the literature in individuals affected with FLNC-related conditions. ClinVar contains an entry for this variant (Variation ID: 374556). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The histidine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
Fulgent Genetics, |
RCV002480273 | SCV002789104 | uncertain significance | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26 | 2021-11-05 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003298427 | SCV003998849 | uncertain significance | Cardiovascular phenotype | 2023-05-15 | criteria provided, single submitter | clinical testing | The p.R361H variant (also known as c.1082G>A), located in coding exon 7 of the FLNC gene, results from a G to A substitution at nucleotide position 1082. The arginine at codon 361 is replaced by histidine, an amino acid with highly similar 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. |