Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000799109 | SCV000938758 | uncertain significance | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2024-01-19 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 1751 of the FLNC protein (p.Arg1751Cys). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with FLNC-related conditions. ClinVar contains an entry for this variant (Variation ID: 645090). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV003330958 | SCV004038072 | uncertain significance | not specified | 2023-08-19 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV004027983 | SCV004871160 | uncertain significance | Cardiovascular phenotype | 2024-03-07 | criteria provided, single submitter | clinical testing | The c.5251C>T (p.R1751C) alteration is located in exon 31 (coding exon 31) of the FLNC gene. This alteration results from a C to T substitution at nucleotide position 5251, causing the arginine (R) at amino acid position 1751 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |