ClinVar Miner

Submissions for variant NM_024649.5(BBS1):c.1110+3G>C

dbSNP: rs762276925
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000787532 SCV002240831 pathogenic Bardet-Biedl syndrome 2023-02-18 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with Bardet–Biedl syndrome (PMID: 18669544). This variant is also known as 1091+3G>C. ClinVar contains an entry for this variant (Variation ID: 635996). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Studies have shown that this variant results in the activation of a cryptic splice site in exon 11 (PMID: 18669544). For these reasons, this variant has been classified as Pathogenic. This sequence change falls in intron 11 of the BBS1 gene. It does not directly change the encoded amino acid sequence of the BBS1 protein. RNA analysis indicates that this variant induces altered splicing and likely results in the loss of 16 amino acid residue(s), but is expected to preserve the integrity of the reading-frame.
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet RCV000787532 SCV000926501 likely pathogenic Bardet-Biedl syndrome 2018-04-01 no assertion criteria provided research
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet RCV000787786 SCV000926795 likely pathogenic Retinitis pigmentosa 2018-04-01 no assertion criteria provided research

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