Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| MGZ Medical Genetics Center | RCV002290075 | SCV002581739 | likely pathogenic | Amyotrophic lateral sclerosis type 1 | 2022-08-26 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV002290075 | SCV003443830 | pathogenic | Amyotrophic lateral sclerosis type 1 | 2024-09-01 | criteria provided, single submitter | clinical testing | This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 66 of the SOD1 protein (p.Asn66Ser). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with autosomal dominant amyotrophic lateral sclerosis (PMID: 12210393, 14506936, 16952453, 24325798). This variant is also known as N65S. ClinVar contains an entry for this variant (Variation ID: 1709733). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt SOD1 protein function with a positive predictive value of 95%. For these reasons, this variant has been classified as Pathogenic. |