Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001342036 | SCV001535937 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2022-07-26 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003365344 | SCV004056748 | uncertain significance | Cardiovascular phenotype | 2023-09-13 | criteria provided, single submitter | clinical testing | The p.H2000P variant (also known as c.5999A>C), located in coding exon 36 of the FLNC gene, results from an A to C substitution at nucleotide position 5999. The histidine at codon 2000 is replaced by proline, an amino acid with similar properties. 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. |