Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000811891 | SCV000952181 | uncertain significance | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2023-09-15 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 655659). 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with FLNC-related conditions. This variant is present in population databases (rs370839908, gnomAD 0.006%). This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 2220 of the FLNC protein (p.Ala2220Val). |
Ambry Genetics | RCV002363105 | SCV002663267 | uncertain significance | Cardiovascular phenotype | 2022-09-17 | criteria provided, single submitter | clinical testing | The p.A2220V variant (also known as c.6659C>T), located in coding exon 40 of the FLNC gene, results from a C to T substitution at nucleotide position 6659. The alanine at codon 2220 is replaced by valine, an amino acid with similar 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. |