Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001045725 | SCV001209596 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2024-01-21 | criteria provided, single submitter | clinical testing | |
Phosphorus, |
RCV001823753 | SCV002073452 | uncertain significance | not specified | 2022-01-19 | criteria provided, single submitter | clinical testing | This missense variant results in a substitution of arginine with glutamine at codon 1354 of the FLNC gene (transcript NM_001458.4). This variant has been reported in ClinVar (843171) NM_001458.5 (FLNC):c.4061G>A (p.Arg1354Gln) and occurred in GnomAD with a total MAF of 0.0029% and highest MAF of 0.0097% in the South Asian population. This position is conserved. In silico functional algorithms agree, predicting it as benign (PolyPhen/REVEL) and tolerated (SIFT), but no functional studies were performed to confirm these predictions. The variant has not occurred in the literature associated with the disease. In conclusion, the available evidence is insufficient to determine the pathogenicity of this variant. Therefore, it is classified as a Variant of Uncertain Significance. |
Ambry Genetics | RCV002320260 | SCV002631350 | uncertain significance | Cardiovascular phenotype | 2023-08-07 | criteria provided, single submitter | clinical testing | The p.R1354Q variant (also known as c.4061G>A), located in coding exon 23 of the FLNC gene, results from a G to A substitution at nucleotide position 4061. The arginine at codon 1354 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is highly 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. |