Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001070820 | SCV001236093 | uncertain significance | Neuroblastoma, susceptibility to, 3 | 2023-09-25 | criteria provided, single submitter | clinical testing | This sequence change replaces serine, which is neutral and polar, with arginine, which is basic and polar, at codon 1437 of the ALK protein (p.Ser1437Arg). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with ALK-related conditions. ClinVar contains an entry for this variant (Variation ID: 863770). 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 | RCV002327366 | SCV002632936 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-01-31 | criteria provided, single submitter | clinical testing | The p.S1437R variant (also known as c.4311C>A), located in coding exon 29 of the ALK gene, results from a C to A substitution at nucleotide position 4311. The serine at codon 1437 is replaced by arginine, an amino acid with dissimilar 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. |