Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001248479 | SCV001421967 | uncertain significance | Bardet-Biedl syndrome | 2022-06-04 | criteria provided, single submitter | clinical testing | This sequence change falls in intron 12 of the BBS2 gene. It does not directly change the encoded amino acid sequence of the BBS2 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs769041685, gnomAD 0.01%). 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: 972444). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus 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. |
Fulgent Genetics, |
RCV002484398 | SCV002786149 | uncertain significance | Bardet-Biedl syndrome 2; Retinitis pigmentosa 74 | 2022-04-06 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002570381 | SCV003551333 | uncertain significance | Inborn genetic diseases | 2021-08-18 | criteria provided, single submitter | clinical testing | The c.1527+5G>C intronic alteration consists of a G to C substitution 5 nucleotides after exon 12 of the BBS2 gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Preventiongenetics, |
RCV003426016 | SCV004116696 | uncertain significance | BBS2-related condition | 2023-06-27 | criteria provided, single submitter | clinical testing | The BBS2 c.1527+5G>C variant is predicted to interfere with splicing. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.014% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/16-56533685-C-G). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |
Natera, |
RCV001830039 | SCV002089269 | uncertain significance | Bardet-Biedl syndrome 2 | 2020-07-14 | no assertion criteria provided | clinical testing |