ClinVar Miner

Submissions for variant NM_152618.3(BBS12):c.104C>A (p.Ser35Ter) (rs1381368546)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000525828 SCV000636537 pathogenic Bardet-Biedl syndrome 2019-12-11 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the BBS12 gene (p.Ser35*). While this is not anticipated to result in nonsense mediated decay, it is expected to delete the last 676 amino acids of the BBS12 protein. This variant is not present in population databases (ExAC no frequency). This variant has been reported as homozygous an individual affected with Bardet-Biedl syndrome (PMID: 20472660). ClinVar contains an entry for this variant (Variation ID: 462963). For these reasons, this variant has been classified as Pathogenic.

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