ClinVar Miner

Submissions for variant NM_024649.5(BBS1):c.830+3A>G

gnomAD frequency: 0.00001  dbSNP: rs747229201
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000426061 SCV000531446 uncertain significance not provided 2016-09-15 criteria provided, single submitter clinical testing The c.830+3A>G variant in the BBS1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to destroy the splice donor site in intron 3, and is expected to cause abnormal gene splicing. The c.830+3A>G variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret c.830+3A>G as a variant of uncertain significance.
Natera, Inc. RCV001833554 SCV002094743 uncertain significance Bardet-Biedl syndrome 1 2019-11-11 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004742420 SCV005346497 uncertain significance BBS1-related disorder 2024-07-23 no assertion criteria provided clinical testing The BBS1 c.830+3A>G variant is predicted to interfere with splicing. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0031% of alleles in individuals of European (Non-Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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