Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001348494 | SCV001542798 | uncertain significance | not provided | 2024-12-12 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 88 of the BBIP1 protein (p.Arg88Gln). This variant is present in population databases (rs781040735, gnomAD 0.009%). 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: 1044270). An algorithm developed to predict the effect of missense changes on protein structure and function outputs the following: PolyPhen-2: "Benign". The glutamine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect 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. |
| Fulgent Genetics, |
RCV002486427 | SCV002782612 | uncertain significance | Bardet-Biedl syndrome 18 | 2022-05-02 | criteria provided, single submitter | clinical testing | |
| Prevention |
RCV003908535 | SCV004723566 | uncertain significance | BBIP1-related disorder | 2024-05-10 | no assertion criteria provided | clinical testing | The BBIP1 c.263G>A variant is predicted to result in the amino acid substitution p.Arg88Gln. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0084% of alleles in individuals of European (Non-Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |