Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001314725 | SCV001505269 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2022-08-09 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002329265 | SCV002630387 | uncertain significance | Cardiovascular phenotype | 2022-09-02 | criteria provided, single submitter | clinical testing | The p.I1387F variant (also known as c.4159A>T), located in coding exon 24 of the FLNC gene, results from an A to T substitution at nucleotide position 4159. The isoleucine at codon 1387 is replaced by phenylalanine, 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. |