ClinVar Miner

Submissions for variant NM_152384.3(BBS5):c.522+3A>G

dbSNP: rs587777828
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 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

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