Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV002040141 | SCV002110122 | uncertain significance | not provided | 2025-01-11 | criteria provided, single submitter | clinical testing | This sequence change replaces proline, which is neutral and non-polar, with arginine, which is basic and polar, at codon 31 of the ITM2B protein (p.Pro31Arg). This variant is present in population databases (rs150336652, gnomAD 0.04%), and has an allele count higher than expected for a pathogenic variant. This missense change has been observed in individual(s) with small vessel disease stroke (PMID: 31719132). ClinVar contains an entry for this variant (Variation ID: 1353049). 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. |
| Fulgent Genetics, |
RCV002478109 | SCV002790202 | uncertain significance | ABri amyloidosis; ADan amyloidosis; Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies | 2021-12-14 | criteria provided, single submitter | clinical testing |