Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001213528 | SCV001385163 | uncertain significance | Bardet-Biedl syndrome | 2022-07-12 | 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 27 of the BBS4 protein (p.Pro27Leu). This variant is present in population databases (rs748048479, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with BBS4-related conditions. ClinVar contains an entry for this variant (Variation ID: 943355). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The leucine 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, |
RCV002497728 | SCV002787560 | uncertain significance | Bardet-Biedl syndrome 4 | 2022-02-24 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV004601393 | SCV005099061 | uncertain significance | Inborn genetic diseases | 2024-05-29 | criteria provided, single submitter | clinical testing | The c.80C>T (p.P27L) alteration is located in exon 3 (coding exon 3) of the BBS4 gene. This alteration results from a C to T substitution at nucleotide position 80, causing the proline (P) at amino acid position 27 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |