Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001960903 | SCV002239267 | uncertain significance | X-linked myopathy with postural muscle atrophy | 2021-05-03 | 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"). This variant has not been reported in the literature in individuals with FHL1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with valine at codon 259 of the FHL1 protein (p.Leu259Val). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and valine. |
| Ambry Genetics | RCV004616921 | SCV005115886 | uncertain significance | Cardiovascular phenotype | 2024-03-24 | criteria provided, single submitter | clinical testing | The p.L259V variant (also known as c.775C>G), located in coding exon 5 of the FHL1 gene, results from a C to G substitution at nucleotide position 775. The leucine at codon 259 is replaced by valine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this alteration remains unclear. |