Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000794164 | SCV000933554 | uncertain significance | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2024-01-24 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 722 of the FLNC protein (p.Gly722Ser). This variant is present in population databases (rs762248114, gnomAD 0.006%). 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: 641020). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on FLNC 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. |
Ambry Genetics | RCV002424804 | SCV002731326 | uncertain significance | Cardiovascular phenotype | 2023-01-07 | criteria provided, single submitter | clinical testing | The p.G722S variant (also known as c.2164G>A), located in coding exon 14 of the FLNC gene, results from a G to A substitution at nucleotide position 2164. The glycine at codon 722 is replaced by serine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. 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. |
Revvity Omics, |
RCV003144593 | SCV003833134 | uncertain significance | not provided | 2021-08-18 | criteria provided, single submitter | clinical testing | |
Neuberg Centre For Genomic Medicine, |
RCV004555596 | SCV005044821 | uncertain significance | Hypertrophic cardiomyopathy 26 | criteria provided, single submitter | clinical testing | Investigations No LVOTO, no MR, normal LV systlic function Clinical suspicion Hypertensive Cardiomyopathy/Apical Cardiomyopathy No additional details available |