ClinVar Miner

Submissions for variant NM_024649.5(BBS1):c.723+1G>C

gnomAD frequency: 0.00001  dbSNP: rs1295318869
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001242050 SCV001415112 pathogenic Bardet-Biedl syndrome 2023-09-08 criteria provided, single submitter clinical testing This sequence change affects a donor 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, 21520335, 27032803). 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: 967203). Disruption of this splice site has been observed in individuals with Bardet-Biedl syndrome and/or clinical features of retinitis pigmentosa (Invitae). This variant is present in population databases (no rsID available, gnomAD 0.006%).
Baylor Genetics RCV003462818 SCV004217379 likely pathogenic Bardet-Biedl syndrome 1 2023-06-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV003462818 SCV005683602 likely pathogenic Bardet-Biedl syndrome 1 2024-01-15 criteria provided, single submitter clinical testing

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