Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001926708 | SCV002200198 | uncertain significance | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2023-08-14 | criteria provided, single submitter | clinical testing | 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 disruptive. 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 1425522). This variant has not been reported in the literature in individuals affected with FLNC-related conditions. This variant is present in population databases (rs777199447, gnomAD 0.009%). This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 403 of the FLNC protein (p.Ala403Val). |
Ambry Genetics | RCV002344063 | SCV002650139 | uncertain significance | Cardiovascular phenotype | 2018-12-31 | criteria provided, single submitter | clinical testing | The p.A403V variant (also known as c.1208C>T), located in coding exon 7 of the FLNC gene, results from a C to T substitution at nucleotide position 1208. The alanine at codon 403 is replaced by valine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Revvity Omics, |
RCV003146367 | SCV003831444 | uncertain significance | not provided | 2020-01-03 | criteria provided, single submitter | clinical testing |