Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000550050 | SCV000651044 | uncertain significance | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2022-09-06 | criteria provided, single submitter | clinical testing | 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 missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 472079). This variant has not been reported in the literature in individuals affected with FLNC-related conditions. This variant is present in population databases (rs753742681, gnomAD 0.002%). This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 1597 of the FLNC protein (p.Thr1597Met). |
Fulgent Genetics, |
RCV002497176 | SCV002804991 | uncertain significance | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26 | 2021-08-13 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004024194 | SCV005017710 | uncertain significance | Cardiovascular phenotype | 2024-03-05 | criteria provided, single submitter | clinical testing | The p.T1597M variant (also known as c.4790C>T), located in coding exon 28 of the FLNC gene, results from a C to T substitution at nucleotide position 4790. The threonine at codon 1597 is replaced by methionine, an amino acid with similar properties. This amino acid position is conserved. 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. |