Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001056596 | SCV001221046 | uncertain significance | Bardet-Biedl syndrome | 2021-08-31 | criteria provided, single submitter | clinical testing | This sequence change replaces aspartic acid with glycine at codon 194 of the BBS2 protein (p.Asp194Gly). The aspartic acid residue is highly conserved and there is a moderate physicochemical difference between aspartic acid and glycine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with BBS2-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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. |
Preventiongenetics, |
RCV003396693 | SCV004105823 | uncertain significance | BBS2-related condition | 2023-06-16 | criteria provided, single submitter | clinical testing | The BBS2 c.581A>G variant is predicted to result in the amino acid substitution p.Asp194Gly. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0058% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/16-56543900-T-C). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |