Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001240567 | SCV001413527 | uncertain significance | not provided | 2025-01-20 | 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 39 of the BBIP1 protein (p.Pro39Leu). This variant is present in population databases (no rsID available, gnomAD 0.05%). This variant has not been reported in the literature in individuals affected with BBIP1-related conditions. ClinVar contains an entry for this variant (Variation ID: 965990). 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, |
RCV002484316 | SCV002783640 | uncertain significance | Bardet-Biedl syndrome 18 | 2022-02-26 | criteria provided, single submitter | clinical testing | |
| Prevention |
RCV003938571 | SCV004754742 | uncertain significance | BBIP1-related disorder | 2024-01-08 | no assertion criteria provided | clinical testing | The BBIP1 c.116C>T variant is predicted to result in the amino acid substitution p.Pro39Leu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.060% of alleles in individuals of Latino descent in gnomAD, which may be too common to be an unreported pathogenic variant. Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |