Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002018998 | SCV002259187 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2023-10-29 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV003146440 | SCV003833203 | uncertain significance | not provided | 2021-09-17 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004042365 | SCV005017685 | uncertain significance | Cardiovascular phenotype | 2023-11-30 | criteria provided, single submitter | clinical testing | The p.V971I variant (also known as c.2911G>A), located in coding exon 19 of the FLNC gene, results from a G to A substitution at nucleotide position 2911. The valine at codon 971 is replaced by isoleucine, an amino acid with highly similar properties. This alteration has been reported in a pediatric cardiomyopathy cohort (Ware SM et al. Am J Hum Genet, 2022 Feb;109:282-298). 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. |