Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV003657499 | SCV002205342 | uncertain significance | not provided | 2023-10-09 | criteria provided, single submitter | clinical testing | This sequence change replaces phenylalanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 888 of the SCN5A protein (p.Phe888Leu). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SCN5A-related conditions. ClinVar contains an entry for this variant (Variation ID: 1429091). 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. |
Ambry Genetics | RCV002458831 | SCV002739491 | uncertain significance | Cardiovascular phenotype | 2024-03-20 | criteria provided, single submitter | clinical testing | The p.F888L variant (also known as c.2662T>C), located in coding exon 15 of the SCN5A gene, results from a T to C substitution at nucleotide position 2662. The phenylalanine at codon 888 is replaced by leucine, an amino acid with highly similar 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. Based on the available evidence, the clinical significance of this alteration remains unclear. |
Laboratorio de Genetica e Diagnostico Molecular, |
RCV003225755 | SCV003808032 | uncertain significance | Atrial fibrillation, familial, 10 | 2022-11-18 | criteria provided, single submitter | clinical testing | ACMG classification criteria: PM2 moderated, PP3 supporting |