Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001246490 | SCV001419848 | uncertain significance | Bardet-Biedl syndrome | 2022-08-31 | criteria provided, single submitter | clinical testing | This variant, c.983_985del, results in the deletion of 1 amino acid(s) of the BBS12 protein (p.Ser328del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs779801356, gnomAD 0.1%). 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: 970839). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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, |
RCV001829992 | SCV002787123 | uncertain significance | Bardet-Biedl syndrome 12 | 2022-04-06 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003918802 | SCV004732209 | likely benign | BBS12-related condition | 2020-06-15 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
Department of Pathology and Laboratory Medicine, |
RCV001355863 | SCV001550869 | uncertain significance | not provided | no assertion criteria provided | clinical testing | The BBS12 p.Ser328del variant was not identified in the literature nor was it identified in ClinVar or LOVD 3.0. The variant was identified in dbSNP (ID: rs779801356) and in control databases in 50 of 282726 chromosomes at a frequency of 0.0001768 (Genome Aggregation Database March 6, 2019, v2.1.1). The variant was observed in the following populations: Ashkenazi Jewish in 14 of 10368 chromosomes (freq: 0.00135), Other in 2 of 7224 chromosomes (freq: 0.000277), South Asian in 8 of 30600 chromosomes (freq: 0.000261), Latino in 7 of 35426 chromosomes (freq: 0.000198), European (non-Finnish) in 18 of 129084 chromosomes (freq: 0.000139) and European (Finnish) in 1 of 25116 chromosomes (freq: 0.00004), but was not observed in the African or East Asian populations. This variant is an in-frame deletion resulting in the removal of a serine (ser) residue at codon 328; the impact of this alteration on BBS12 protein function is not known. The variant occurs outside of the splicing consensus sequence and three of four in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer) do not predict a greater than 10% difference in splicing; this is not very predictive of pathogenicity. In summary, based on the above information the clinical significance of this variant cannot be determined with certainty at this time. This variant is classified as a variant of uncertain significance. | |
Natera, |
RCV001829992 | SCV002082496 | uncertain significance | Bardet-Biedl syndrome 12 | 2019-11-11 | no assertion criteria provided | clinical testing |