Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001328270 | SCV002226481 | pathogenic | Bardet-Biedl syndrome | 2023-06-09 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as 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 BBS7 protein function. ClinVar contains an entry for this variant (Variation ID: 988240). This missense change has been observed in individual(s) with Bardet-Biedl syndrome (PMID: 21052717, 27486776). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. This variant is present in population databases (no rsID available, gnomAD 0.004%). This sequence change replaces glutamine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 293 of the BBS7 protein (p.Gln293Pro). |
Baylor Genetics | RCV003462850 | SCV004214164 | likely pathogenic | Bardet-Biedl syndrome 7 | 2023-05-08 | criteria provided, single submitter | clinical testing | |
Sydney Genome Diagnostics, |
RCV001328270 | SCV001449192 | likely pathogenic | Bardet-Biedl syndrome | 2018-03-06 | no assertion criteria provided | clinical testing | This patient is heterozygous for the c.187G>A (p.Gly63Arg) variant in the BBS7 gene. This variant (dbSNP: rs754579374) has been previously reported in trans with another BBS7 pathogenic variant in two siblings with Bardet-Biedl syndrome (BBS, Bin et al 2009 Hum Mutat 30:E737-E746). This variant has been reported in the Exome Aggregation Consortium (ExAC) database (http://exac.broadinstitute.org) with an extremely low frequency (2 out of 120402 alleles). In silico analysis (through Alamut Visual v2.8.1) using PolyPhen2, SIFT and Mutation Taster all predict this variant to be a likely pathogenic variant. This variant is considered to be likely pathogenic according to the ACMG guidelines. |