Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000649121 | SCV000770946 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2023-09-23 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002325298 | SCV002606924 | uncertain significance | Cardiovascular phenotype | 2019-08-30 | criteria provided, single submitter | clinical testing | The p.T1087S variant (also known as c.3260C>G), located in coding exon 21 of the FLNC gene, results from a C to G substitution at nucleotide position 3260. The threonine at codon 1087 is replaced by serine, 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. |
Gene |
RCV003441996 | SCV004170646 | uncertain significance | not provided | 2023-10-25 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function |