Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000699358 | SCV000828064 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2023-11-18 | criteria provided, single submitter | clinical testing | |
Blueprint Genetics | RCV000788675 | SCV000927867 | uncertain significance | not provided | 2018-08-21 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002360788 | SCV002624704 | uncertain significance | Cardiovascular phenotype | 2024-02-09 | criteria provided, single submitter | clinical testing | The p.R1267W variant (also known as c.3799C>T), located in coding exon 22 of the FLNC gene, results from a C to T substitution at nucleotide position 3799. The arginine at codon 1267 is replaced by tryptophan, an amino acid with dissimilar properties. This alteration has been reported in a healthy control population in a hypertrophic cardiomyopathy study (Gómez J et al. Circ Cardiovasc Genet, 2017 Apr;10:[ePub ahead of print]). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Fulgent Genetics, |
RCV002493217 | SCV002785087 | uncertain significance | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26 | 2021-07-26 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000788675 | SCV003831405 | uncertain significance | not provided | 2020-09-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000788675 | SCV003921731 | uncertain significance | not provided | 2022-11-01 | criteria provided, single submitter | clinical testing | Reported previously in a cohort of healthy controls in a study of individuals with hypertrophic cardiomyopathy (Gomez et al., 2017); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 28356264) |