Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
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 |
RCV000735918 | SCV000839550 | pathogenic | Bardet-Biedl syndrome | 2018-09-15 | no assertion criteria provided | provider interpretation | |
Department of Clinical Genetics, |
RCV000787533 | SCV000926504 | likely pathogenic | not provided | 2018-04-01 | no assertion criteria provided | research |