ClinVar Miner

Submissions for variant NM_024649.5(BBS1):c.831-3C>G

dbSNP: rs113994179
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV000995705 SCV001150024 pathogenic Bardet-Biedl syndrome 1 2018-01-25 criteria provided, single submitter clinical testing
Baylor Genetics RCV000995705 SCV001521570 uncertain significance Bardet-Biedl syndrome 1 2020-01-20 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Invitae RCV000020905 SCV002258043 uncertain significance Bardet-Biedl syndrome 2021-04-21 criteria provided, single submitter clinical testing This sequence change falls in intron 9 of the BBS1 gene. It does not directly change the encoded amino acid sequence of the BBS1 protein. It affects a nucleotide within the consensus splice site of the intron. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has been observed in individual(s) with clinical features of Bardet-Biedl syndrome (PMID: 12677556). This variant is also known as IVS9-3C>G. ClinVar contains an entry for this variant (Variation ID: 21707). This variant is present in population databases (rs113994179, ExAC 0.006%).
GeneReviews RCV000020905 SCV000041507 pathologic Bardet-Biedl syndrome 2009-10-13 no assertion criteria provided curation Converted during submission to Pathogenic.

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