Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001056253 | SCV001220687 | uncertain significance | Bardet-Biedl syndrome | 2021-08-31 | criteria provided, single submitter | clinical testing | This sequence change replaces serine with asparagine at codon 395 of the BBS7 protein (p.Ser395Asn). The serine residue is highly conserved and there is a small physicochemical difference between serine and asparagine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with BBS7-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 tolerated. 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, |
RCV003396691 | SCV004106017 | uncertain significance | BBS7-related condition | 2023-02-24 | criteria provided, single submitter | clinical testing | The BBS7 c.1184G>A variant is predicted to result in the amino acid substitution p.Ser395Asn. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0018% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/4-122766705-C-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |