Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001320367 | SCV001511149 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2023-05-22 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004035004 | SCV005017736 | uncertain significance | Cardiovascular phenotype | 2023-10-17 | criteria provided, single submitter | clinical testing | The p.P1490S variant (also known as c.4468C>T), located in coding exon 26 of the FLNC gene, results from a C to T substitution at nucleotide position 4468. The proline at codon 1490 is replaced by serine, an amino acid with similar properties. This variant has been reported in a cardiomyopathy cohort (Akinrinade O et al. J Cardiovasc Transl Res, 2023 Jul;[ePub ahead of print]). 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. |