ClinVar Miner

Submissions for variant NM_198428.3(BBS9):c.1789+1G>A (rs201938124)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000413775 SCV000226705 pathogenic not provided 2015-04-23 criteria provided, single submitter clinical testing
GeneDx RCV000413775 SCV000491255 pathogenic not provided 2016-10-25 criteria provided, single submitter clinical testing The c.1789+1G>A pathogenic variant in the BBS9 gene has been reported previously in the homozygous state in an individual with Bardet-Biedl syndrome (Nishimura et al., 2005). This splice site variant destroys the canonical splice donor site in intron 17. It is predicted to cause abnormal gene splicing, either leading to an abnormal message that is subject to nonsense-mediated mRNA decay, or to an abnormal protein product if the message is used for protein translation. The c.1789+1G>A variant was not observed in approximately 6500 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.1789+1G>A as a pathogenic variant.
OMIM RCV000002775 SCV000022933 pathogenic Bardet-Biedl syndrome 9 2005-12-01 no assertion criteria provided literature only

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