ClinVar Miner

Submissions for variant NM_024685.4(BBS10):c.1676dup (p.Tyr559Ter) (rs1565809478)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MAGI'S LAB - Medical Genetics Laboratory, MAGI GROUP RCV000782275 SCV000897986 pathogenic Bardet-Biedl syndrome 2018-10-01 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000782275 SCV001337981 pathogenic Bardet-Biedl syndrome 2020-01-23 criteria provided, single submitter clinical testing Variant summary: BBS10 c.1676dupA (p.Tyr559X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant was absent in 250828 control chromosomes (gnomAD). c.1676dupA has been reported in the literature in individuals affected with Bardet-Biedl Syndrome (examples- Billingsley_2010, Janssen_2011, Daniels_2012, Knopp_2015). These data indicate that the variant is likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. One other clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. and cited the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.

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