Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV002307356 | SCV002600800 | pathogenic | Bardet-Biedl syndrome | 2022-10-28 | criteria provided, single submitter | clinical testing | Variant summary: BBS5 c.522+3A>G alters a conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. Several computational tools predict a significant impact on normal splicing: Three predict the variant abolishes/weakens a 5' splicing donor site. Experimental evidence supports these predictions, demonstrating this variant affects mRNA splicing (Li_2004). The variant was absent in 251280 control chromosomes (gnomAD). c.522+3A>G has been reported in the literature as a homozygous genotype in multiple individuals affected with Bardet-Biedl Syndrome, segregating with disease within families (example Li_2004, Webb_2009). These data indicate that the variant is very likely to be associated with disease. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as pathogenic. |
OMIM | RCV000006532 | SCV000026715 | pathogenic | Bardet-Biedl syndrome 5 | 2004-05-14 | no assertion criteria provided | literature only |