ClinVar Miner

Submissions for variant NM_024685.4(BBS10):c.728_731del (p.Lys243fs) (rs786204671)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169474 SCV000220920 likely pathogenic Bardet-Biedl syndrome 10 2014-11-25 criteria provided, single submitter literature only
Invitae RCV000638365 SCV000759864 pathogenic Bardet-Biedl syndrome 2017-09-22 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the BBS10 gene (p.Lys243Ilefs*15). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 481 amino acids (~67%) of the BBS10 protein. This variant is not present in population databases (ExAC no frequency). This variant has been reported in the literature in individuals and families affected with Bardet-Biedl syndrome (PMID: 16582908, 22773737, 24041679) and to segregate with disease in several families (PMID:17106446, 22353939). It has been suggested as a founder mutation in the South Africa population (PMID: 27245532). This variant is also known as c.995_999delAAGA (p.Q242fs258X) in the literature. ClinVar contains an entry for this variant (Variation ID: 189071). Different truncations downstream of this variant (p.Val707* and p.Gly677Valfs*5) have been determined to be pathogenic (PMID: 25982971, 22773737, 27486776, 20472660, Invitae). This suggests that deletion of this region of the BBS10 protein is causative of disease. For these reasons, this variant has been classified as Pathogenic.
Laboratory of Medical Genetics, INSERM RCV000638365 SCV000839564 pathogenic Bardet-Biedl syndrome 2018-09-15 no assertion criteria provided provider interpretation

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