Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000665676 | SCV000789835 | uncertain significance | Bardet-Biedl syndrome 12 | 2017-02-22 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001307943 | SCV001497372 | uncertain significance | Bardet-Biedl syndrome | 2023-11-27 | criteria provided, single submitter | clinical testing | This sequence change replaces tyrosine, which is neutral and polar, with histidine, which is basic and polar, at codon 263 of the BBS12 protein (p.Tyr263His). This variant is present in population databases (rs150040166, gnomAD 0.05%). This missense change has been observed in individual(s) with clinical features of Bardet-Biedl syndrome (PMID: 20472660). ClinVar contains an entry for this variant (Variation ID: 550824). 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 BBS12 protein function with a negative predictive value of 80%. 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, |
RCV000665676 | SCV002817089 | uncertain significance | Bardet-Biedl syndrome 12 | 2022-04-19 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003907928 | SCV004724444 | uncertain significance | BBS12-related condition | 2024-01-11 | criteria provided, single submitter | clinical testing | The BBS12 c.787T>C variant is predicted to result in the amino acid substitution p.Tyr263His. This variant was previously reported as an additional variant in a patient who presented with Bardet-Biedl syndrome; however, that individual already carried plausible causative variants in BBS10 (Billingsley et al. 2010. PubMed ID: 20472660). This variant is reported in 0.056% of alleles in individuals of African 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, |
RCV000665676 | SCV002082489 | uncertain significance | Bardet-Biedl syndrome 12 | 2020-02-06 | no assertion criteria provided | clinical testing |