Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000175981 | SCV000227561 | uncertain significance | not provided | 2015-01-20 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001238784 | SCV001411613 | uncertain significance | Bardet-Biedl syndrome | 2021-08-28 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine with histidine at codon 674 of the BBS12 protein (p.Arg674His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs766952842, ExAC no frequency). This variant has not been reported in the literature in individuals affected with BBS12-related conditions. ClinVar contains an entry for this variant (Variation ID: 195414). 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. 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. |
Fulgent Genetics, |
RCV001826888 | SCV002790065 | uncertain significance | Bardet-Biedl syndrome 12 | 2021-11-12 | criteria provided, single submitter | clinical testing | |
Preventiongenetics, |
RCV003430727 | SCV004116964 | uncertain significance | BBS12-related condition | 2023-02-20 | criteria provided, single submitter | clinical testing | The BBS12 c.2021G>A variant is predicted to result in the amino acid substitution p.Arg674His. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0055% of alleles in individuals of East Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/4-123665068-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |
Natera, |
RCV001826888 | SCV002084746 | uncertain significance | Bardet-Biedl syndrome 12 | 2019-10-28 | no assertion criteria provided | clinical testing |