Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Baylor Genetics | RCV001292625 | SCV001481216 | pathogenic | Bardet-Biedl syndrome 7 | 2024-03-20 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV001328271 | SCV002241347 | pathogenic | Bardet-Biedl syndrome | 2023-12-25 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 63 of the BBS7 protein (p.Gly63Arg). This variant is present in population databases (rs754579374, gnomAD 0.003%). This missense change has been observed in individual(s) with Bardet-Biedl syndrome (PMID: 19402160). 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. ClinVar contains an entry for this variant (Variation ID: 988241). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on BBS7 protein function. For these reasons, this variant has been classified as Pathogenic. |
| Fulgent Genetics, |
RCV001292625 | SCV005658536 | likely pathogenic | Bardet-Biedl syndrome 7 | 2024-05-31 | criteria provided, single submitter | clinical testing | |
| Sydney Genome Diagnostics, |
RCV001328271 | SCV001449193 | likely pathogenic | Bardet-Biedl syndrome | 2018-03-06 | no assertion criteria provided | clinical testing | This patient is heterozygous for the c.878A>C (p.Gln293Pro) variant in the BBS7 gene. This variant has not been reported in any population databases (i.e. ExAC browser, ESP or dbSNP). However, this variant has been previously reported in the homozygote state in two family members with BBS (Janssen et al 2011 Hum Genet 129:79-90), and in the heterozygote state in trans with another BBS7 pathogenic variant in another family with two individuals with BBS (Lindstrand et al 2016 Am J Hum Genet 99:318-336). This variant is considered to be likely pathogenic according to the ACMG guidelines. |