ClinVar Miner

Submissions for variant NM_152618.3(BBS12):c.2056_2059ACAG[1] (p.Asp687fs) (rs746478265)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000693654 SCV000821531 likely pathogenic Bardet-Biedl syndrome 2018-05-25 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the BBS12 gene (p.Asp687Valfs*3). While this is not anticipated to result in nonsense mediated decay, it is expected to delete the last 24 amino acids of the BBS12 protein. This variant is present in population databases (rs746478265, ExAC 0.006%). This variant has been observed to be homozygous an individual with suspected Bardet-Biedl syndrome (Invitae). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the disrupted amino acids is currently unknown. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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