Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV003276700 | SCV003970101 | uncertain significance | Inborn genetic diseases | 2023-04-25 | criteria provided, single submitter | clinical testing | The c.685C>A (p.P229T) alteration is located in exon 2 (coding exon 2) of the BBS10 gene. This alteration results from a C to A substitution at nucleotide position 685, causing the proline (P) at amino acid position 229 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
| Labcorp Genetics |
RCV003779961 | SCV004684010 | uncertain significance | Bardet-Biedl syndrome | 2023-06-30 | criteria provided, single submitter | clinical testing | 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. 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 expected to disrupt BBS10 protein function. This variant has not been reported in the literature in individuals affected with BBS10-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces proline, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 229 of the BBS10 protein (p.Pro229Thr). |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV004690398 | SCV005184781 | uncertain significance | not specified | 2024-05-13 | criteria provided, single submitter | clinical testing |