ClinVar Miner

Submissions for variant NM_152618.3(BBS12):c.1949del (p.Asn649_Ser650insTer)

dbSNP: rs1444062882
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668241 SCV000792814 likely pathogenic Bardet-Biedl syndrome 12 2017-07-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001388449 SCV001589447 pathogenic Bardet-Biedl syndrome 2020-06-25 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts the C-terminus of the BBS12 protein. Other variant(s) that disrupt this region (p.Arg675*) have been determined to be pathogenic (PMID: 20827784, 21642631). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. This variant has not been reported in the literature in individuals with BBS12-related conditions. ClinVar contains an entry for this variant (Variation ID: 552893). This variant is not present in population databases (ExAC no frequency). This sequence change results in a premature translational stop signal in the BBS12 gene (p.Ser650*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 61 amino acids of the BBS12 protein.

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