Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000816362 | SCV000956865 | likely pathogenic | Bardet-Biedl syndrome | 2022-11-29 | criteria provided, single submitter | clinical testing | This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 409 of the BBS12 protein (p.Val409Met). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. 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 BBS12 protein function. ClinVar contains an entry for this variant (Variation ID: 659369). This missense change has been observed in individual(s) with BBS12-related conditions (Invitae). This variant is not present in population databases (gnomAD no frequency). |