Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000821076 | SCV000961818 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2024-01-28 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002427057 | SCV002742527 | uncertain significance | Cardiovascular phenotype | 2023-05-11 | criteria provided, single submitter | clinical testing | The p.A838V variant (also known as c.2513C>T), located in coding exon 16 of the FLNC gene, results from a C to T substitution at nucleotide position 2513. The alanine at codon 838 is replaced by valine, 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. |