Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001048238 | SCV001212230 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2023-09-03 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002348384 | SCV002651209 | uncertain significance | Cardiovascular phenotype | 2023-04-13 | criteria provided, single submitter | clinical testing | The p.Y1826C variant (also known as c.5477A>G), located in coding exon 33 of the FLNC gene, results from an A to G substitution at nucleotide position 5477. The tyrosine at codon 1826 is replaced by cysteine, an amino acid with highly dissimilar 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. |
Gene |
RCV003128739 | SCV003805795 | uncertain significance | not provided | 2023-02-23 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function |