Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000543324 | SCV000641266 | uncertain significance | Autosomal recessive distal spinal muscular atrophy 2; Amyotrophic lateral sclerosis type 16 | 2022-10-17 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 155 of the SIGMAR1 protein (p.Gly155Arg). This variant is present in population databases (rs200076129, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with SIGMAR1-related conditions. ClinVar contains an entry for this variant (Variation ID: 465869). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest 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. |
| Athena Diagnostics | RCV001662555 | SCV001880310 | uncertain significance | not provided | 2021-01-20 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV002330884 | SCV002633604 | likely benign | Inborn genetic diseases | 2024-01-04 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |