Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000791626 | SCV000930884 | uncertain significance | Neuroblastoma, susceptibility to, 3 | 2018-09-17 | 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 ALK-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with valine at codon 1424 of the ALK protein (p.Leu1424Val). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and valine. |
Ambry Genetics | RCV002332579 | SCV002631723 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-04-04 | criteria provided, single submitter | clinical testing | The p.L1424V variant (also known as c.4270C>G), located in coding exon 29 of the ALK gene, results from a C to G substitution at nucleotide position 4270. The leucine at codon 1424 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 tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |