Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000553801 | SCV000651033 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2023-11-05 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002341414 | SCV002640225 | uncertain significance | Cardiovascular phenotype | 2023-01-22 | criteria provided, single submitter | clinical testing | The p.Q1522R variant (also known as c.4565A>G), located in coding exon 26 of the FLNC gene, results from an A to G substitution at nucleotide position 4565. The glutamine at codon 1522 is replaced by arginine, an amino acid with highly 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. |