Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001223250 | SCV001395389 | uncertain significance | Bardet-Biedl syndrome | 2022-08-20 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamic acid, which is acidic and polar, with glutamine, which is neutral and polar, at codon 667 of the BBS2 protein (p.Glu667Gln). This variant is present in population databases (no rsID available, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with BBS2-related conditions. ClinVar contains an entry for this variant (Variation ID: 951358). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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. |
Ambry Genetics | RCV002563034 | SCV003760566 | uncertain significance | Inborn genetic diseases | 2022-06-24 | criteria provided, single submitter | clinical testing | The c.1999G>C (p.E667Q) alteration is located in exon 16 (coding exon 16) of the BBS2 gene. This alteration results from a G to C substitution at nucleotide position 1999, causing the glutamic acid (E) at amino acid position 667 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Preventiongenetics, |
RCV003398966 | SCV004118769 | uncertain significance | BBS2-related condition | 2023-09-11 | criteria provided, single submitter | clinical testing | The BBS2 c.1999G>C variant is predicted to result in the amino acid substitution p.Glu667Gln. 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/16-56519562-C-G). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |
Natera, |
RCV001828779 | SCV002089254 | uncertain significance | Bardet-Biedl syndrome 2 | 2021-07-06 | no assertion criteria provided | clinical testing |