Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001721389 | SCV000532346 | likely benign | not provided | 2021-07-17 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000555502 | SCV000651073 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2024-01-20 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002348227 | SCV002647236 | uncertain significance | Cardiovascular phenotype | 2022-08-29 | criteria provided, single submitter | clinical testing | The p.P1771A variant (also known as c.5311C>G), located in coding exon 32 of the FLNC gene, results from a C to G substitution at nucleotide position 5311. The proline at codon 1771 is replaced by alanine, an amino acid with highly similar properties. This alteration was reported in a subject with dilated cardiomyopathy (DCM) who also had variants in other cardiac-related genes (van Lint FHM et al. Neth Heart J, 2019 Jun;27:304-309). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |