Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000649155 | SCV000770980 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2023-12-23 | criteria provided, single submitter | clinical testing | |
Gene |
RCV002051873 | SCV002319179 | uncertain significance | not provided | 2023-02-01 | criteria provided, single submitter | clinical testing | Reported in at least one individual with HCM; however, p.(P1102S) was also identified in two control alleles (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) |
Ambry Genetics | RCV002458122 | SCV002612131 | uncertain significance | Cardiovascular phenotype | 2024-03-01 | criteria provided, single submitter | clinical testing | The p.P1102S variant (also known as c.3304C>T), located in coding exon 21 of the FLNC gene, results from a C to T substitution at nucleotide position 3304. The proline at codon 1102 is replaced by serine, an amino acid with similar properties. This variant has been detected in a hypertrophic cardiomyopathy cohort, but was also detected in controls (Gómez J et al. Circ Cardiovasc Genet, 2017 Apr;10:). 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. |
Revvity Omics, |
RCV002051873 | SCV003833158 | uncertain significance | not provided | 2020-11-16 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV003150321 | SCV003838384 | uncertain significance | Cardiomyopathy | 2021-10-12 | criteria provided, single submitter | clinical testing |