Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002321318 | SCV002631922 | uncertain significance | Cardiovascular phenotype | 2023-06-06 | criteria provided, single submitter | clinical testing | The c.4054C>A (p.R1352S) alteration is located in exon 23 (coding exon 23) of the FLNC gene. This alteration results from a C to A substitution at nucleotide position 4054, causing the arginine (R) at amino acid position 1352 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Invitae | RCV003102511 | SCV003510022 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2023-08-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003443033 | SCV004169488 | uncertain significance | not provided | 2023-05-11 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |