Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV002904553 | SCV003258893 | uncertain significance | not provided | 2022-08-06 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 123 of the CYB5R3 protein (p.Ala123Thr). This variant is present in population databases (rs367914897, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with CYB5R3-related conditions. 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. |
| Revvity Omics, |
RCV003146673 | SCV003830375 | uncertain significance | Deficiency of cytochrome-b5 reductase | 2023-07-13 | criteria provided, single submitter | clinical testing | |
| ARUP Laboratories, |
RCV002904553 | SCV005878406 | uncertain significance | not provided | 2024-07-30 | criteria provided, single submitter | clinical testing | The CYB5R3 c.367G>A; p.Ala123Thr variant (rs367914897), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 2050662). This variant is found in the general population with an overall allele frequency of 0.004% (10/282870 alleles) in the Genome Aggregation Database (v2.1.1). Computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.259). Due to limited information, the clinical significance of this variant is uncertain at this time. |