Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV003032841 | SCV003332804 | uncertain significance | Neuroblastoma, susceptibility to, 3 | 2022-06-29 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). 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 affected with ALK-related conditions. This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 321 of the ALK protein (p.Leu321Phe). |
Ambry Genetics | RCV004948916 | SCV005602923 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-10-25 | criteria provided, single submitter | clinical testing | The p.L321F variant (also known as c.961C>T), located in coding exon 4 of the ALK gene, results from a C to T substitution at nucleotide position 961. The leucine at codon 321 is replaced by phenylalanine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear. |