Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV002584963 | SCV003489265 | uncertain significance | Hereditary spastic paraplegia 62 | 2024-11-18 | criteria provided, single submitter | clinical testing | This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 54 of the ERLIN1 protein (p.Met54Val). This variant is present in population databases (rs769618226, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with ERLIN1-related conditions. ClinVar contains an entry for this variant (Variation ID: 2174083). 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) has been performed for this missense variant. However, the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on ERLIN1 protein function. 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 | RCV004073383 | SCV003694904 | uncertain significance | not specified | 2022-09-14 | criteria provided, single submitter | clinical testing | The c.160A>G (p.M54V) alteration is located in exon 2 (coding exon 2) of the ERLIN1 gene. This alteration results from a A to G substitution at nucleotide position 160, causing the methionine (M) at amino acid position 54 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |