Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| ARUP Laboratories, |
RCV001289905 | SCV001477905 | uncertain significance | Charcot-Marie-Tooth disease type 4B3 | 2020-04-21 | criteria provided, single submitter | clinical testing | The SBF1 c.3251C>T; p.Pro1084Leu variant (rs749516637), to our knowledge, is not reported in the medical literature or gene-specific databases. This variant is found in the general population with an overall allele frequency of 0.01% (28/278862 alleles) in the Genome Aggregation Database. The proline at codon 1084 is weakly conserved and computational analyses (SIFT, PolyPhen-2) predict that this variant is tolerated. However, due to limited information, the clinical significance of the p.Pro1084Leu variant is uncertain at this time. |
| Invitae | RCV002538387 | SCV003270935 | uncertain significance | not provided | 2023-10-29 | criteria provided, single submitter | clinical testing | This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 1084 of the SBF1 protein (p.Pro1084Leu). This variant is present in population databases (rs749516637, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with SBF1-related conditions. ClinVar contains an entry for this variant (Variation ID: 995708). 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. |