Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001921309 | SCV002199716 | uncertain significance | X-linked myopathy with postural muscle atrophy | 2023-05-30 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with FHL1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1423972). 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. This sequence change replaces cysteine, which is neutral and slightly polar, with tyrosine, which is neutral and polar, at codon 10 of the FHL1 protein (p.Cys10Tyr). |
| Ambry Genetics | RCV002441046 | SCV002747923 | uncertain significance | Cardiovascular phenotype | 2020-01-24 | criteria provided, single submitter | clinical testing | The p.C10Y variant (also known as c.29G>A), located in coding exon 1 of the FHL1 gene, results from a G to A substitution at nucleotide position 29. The cysteine at codon 10 is replaced by tyrosine, an amino acid with highly dissimilar properties. This amino acid position is highly conserved in available vertebrate species. 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. |
| Fulgent Genetics, |
RCV002491931 | SCV002800759 | uncertain significance | Myopathy, reducing body, X-linked, childhood-onset; Myopathy, reducing body, X-linked, early-onset, severe; X-linked myopathy with postural muscle atrophy; Uruguay Faciocardiomusculoskeletal syndrome; X-linked scapuloperoneal muscular dystrophy | 2021-10-05 | criteria provided, single submitter | clinical testing | |
| Gene |
RCV003232468 | SCV003930235 | uncertain significance | not provided | 2023-05-30 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge |