Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002000251 | SCV002266940 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2023-11-24 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002386851 | SCV002691230 | uncertain significance | Cardiovascular phenotype | 2021-10-28 | criteria provided, single submitter | clinical testing | The p.N329S variant (also known as c.986A>G), located in coding exon 6 of the FLNC gene, results from an A to G substitution at nucleotide position 986. The asparagine at codon 329 is replaced by serine, an amino acid with highly similar properties. This alteration has been reported in a hypertrophic cardiomyopathy (HCM) cohort; however, clinical details were limited (Alejandra Restrepo-Cordoba M et al. J Cardiovasc Transl Res, 2017 Feb;10:35-46). This amino acid position is well 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. |