Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001223178 | SCV001395315 | uncertain significance | Bardet-Biedl syndrome | 2022-10-17 | 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 81 of the BBS1 protein (p.Pro81Leu). This variant is present in population databases (no rsID available, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with BBS1-related conditions. ClinVar contains an entry for this variant (Variation ID: 951302). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt BBS1 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. |
| Ambry Genetics | RCV003246771 | SCV003938501 | uncertain significance | Inborn genetic diseases | 2023-03-23 | criteria provided, single submitter | clinical testing | The c.242C>T (p.P81L) alteration is located in exon 4 (coding exon 4) of the BBS1 gene. This alteration results from a C to T substitution at nucleotide position 242, causing the proline (P) at amino acid position 81 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
| Natera, |
RCV001828778 | SCV002094719 | uncertain significance | Bardet-Biedl syndrome 1 | 2020-04-14 | no assertion criteria provided | clinical testing | |
| Prevention |
RCV003398965 | SCV004110773 | uncertain significance | BBS1-related disorder | 2024-03-29 | no assertion criteria provided | clinical testing | The BBS1 c.242C>T variant is predicted to result in the amino acid substitution p.Pro81Leu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0026% 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. |