Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV005520393 | SCV006201015 | uncertain significance | Inborn genetic diseases | 2025-05-29 | criteria provided, single submitter | clinical testing | The c.1624G>T (p.G542C) alteration is located in exon 13 (coding exon 13) of the BBS2 gene. This alteration results from a G to T substitution at nucleotide position 1624, causing the glycine (G) at amino acid position 542 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
| Fulgent Genetics, |
RCV002481924 | SCV002793813 | uncertain significance | Bardet-Biedl syndrome 2; Retinitis pigmentosa 74 | 2024-06-18 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV001046291 | SCV001210188 | uncertain significance | Bardet-Biedl syndrome | 2022-08-16 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine, which is neutral and non-polar, with cysteine, which is neutral and slightly polar, at codon 542 of the BBS2 protein (p.Gly542Cys). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with BBS2-related conditions. ClinVar contains an entry for this variant (Variation ID: 843618). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C25"). 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. |
| Prevention |
RCV004733121 | SCV005343337 | uncertain significance | BBS2-related disorder | 2024-03-23 | no assertion criteria provided | clinical testing | The BBS2 c.1624G>T variant is predicted to result in the amino acid substitution p.Gly542Cys. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.00088% 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. |
| Natera, |
RCV001827288 | SCV002089267 | uncertain significance | Bardet-Biedl syndrome 2 | 2020-02-06 | no assertion criteria provided | clinical testing |