ClinVar Miner

Submissions for variant NM_024649.5(BBS1):c.1473+4A>G

gnomAD frequency: 0.00001  dbSNP: rs1486200900
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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 RCV000735918 SCV001409307 pathogenic Bardet-Biedl syndrome 2022-08-20 criteria provided, single submitter clinical testing This variant has been observed in individual(s) with Bardet-Biedl syndrome (PMID: 21642631, 22773737, 23432027). This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 14 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. For these reasons, this variant has been classified as Pathogenic. Variants that disrupt 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. ClinVar contains an entry for this variant (Variation ID: 585172).
Laboratory of Medical Genetics (UMR_S 1112), INSERM/Strasbourg University RCV000735918 SCV000839550 pathogenic Bardet-Biedl syndrome 2018-09-15 no assertion criteria provided provider interpretation
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet RCV000787533 SCV000926504 likely pathogenic not provided 2018-04-01 no assertion criteria provided research

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