ClinVar Miner

Submissions for variant NM_024649.5(BBS1):c.724-1G>C

gnomAD frequency: 0.00003  dbSNP: rs748523268
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667597 SCV000792075 likely pathogenic Bardet-Biedl syndrome 1 2017-06-08 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000667597 SCV000893908 pathogenic Bardet-Biedl syndrome 1 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV001377611 SCV001574991 pathogenic Bardet-Biedl syndrome 2022-01-07 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 552356). Disruption of this splice site has been observed in individual(s) with retinitis pigmentosa (Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is present in population databases (rs748523268, gnomAD 0.07%). This sequence change affects an acceptor splice site in intron 8 of the BBS1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in BBS1 are known to be pathogenic (PMID: 12118255).

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