ClinVar Miner

Submissions for variant NM_152618.3(BBS12):c.1531_1539del (p.Gln511_Gln513del) (rs752762669)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000503271 SCV000593597 likely pathogenic Bardet-Biedl syndrome 12 2016-03-23 criteria provided, single submitter clinical testing
Institute of Human Genetics,Klinikum rechts der Isar RCV000503271 SCV000680152 pathogenic Bardet-Biedl syndrome 12 2017-09-08 criteria provided, single submitter clinical testing
Invitae RCV000801690 SCV000941480 uncertain significance Bardet-Biedl syndrome 2019-10-12 criteria provided, single submitter clinical testing This variant, c.1531_1539delCAGATGCAA, results in the deletion of 3 amino acids of the BBS12 protein (p.Gln511_Gln513del), but otherwise preserves the integrity of the reading frame. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has been observed in combination with a pathogenic variant in individuals affected with Bardet-Biedl syndrome (PMID: 20120035, 17160889). ClinVar contains an entry for this variant (Variation ID: 434492). Experimental studies have shown that this in-frame deletion results in a protein that cannot fully rescue BBS12 function in zebrafish (PMID: 20498079) In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Blueprint Genetics RCV001073940 SCV001239505 likely pathogenic Retinal dystrophy 2018-07-16 criteria provided, single submitter clinical testing
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet RCV000787787 SCV000926797 likely pathogenic Retinitis pigmentosa 2018-04-01 no assertion criteria provided research

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