Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Counsyl | RCV000410778 | SCV000486351 | likely pathogenic | Bardet-Biedl syndrome 1 | 2016-05-20 | criteria provided, single submitter | clinical testing | |
| Centre for Mendelian Genomics, |
RCV001195826 | SCV001366246 | pathogenic | Atrioventricular septal defect; Global developmental delay; Microcephaly; Postaxial hand polydactyly; Postaxial foot polydactyly | 2018-11-15 | criteria provided, single submitter | clinical testing | This variant was classified as: Uncertain significance. The available evidence on this varinat's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PM2,PP3. This variant was detected in heterozygous state. |
| Integrated Genetics/Laboratory Corporation of America | RCV000735921 | SCV001431953 | pathogenic | Bardet-Biedl syndrome | 2020-08-17 | criteria provided, single submitter | clinical testing | Variant summary: BBS1 c.951+1G>A is located in a canonical splice-site and is predicted to affect mRNA splicing resulting in a significantly altered protein due to either exon skipping, shortening, or inclusion of intronic material. Several computational tools predict a significant impact on normal splicing: Four predict the variant abolishes a 5' splicing donor site. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 8e-06 in 251330 control chromosomes. c.951+1G>A has been reported in the literature in multiple individuals affected with features of Bardet-Biedl Syndrome (example, Fauser_2003, Redin_2012, Forsyth_2017, Komazec_2019). These data indicate that the variant is very likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Four clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as pathogenic (n=3)/likely pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic. |
| Laboratory of Medical Genetics, |
RCV000735921 | SCV000839554 | pathogenic | Bardet-Biedl syndrome | 2018-09-15 | no assertion criteria provided | provider interpretation |