ClinVar Miner

Submissions for variant NM_152618.3(BBS12):c.860AAG[1] (p.Glu288del)

dbSNP: rs745504524
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666763 SCV000791113 uncertain significance Bardet-Biedl syndrome 12 2017-04-28 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001075470 SCV001241093 uncertain significance Retinal dystrophy 2018-10-11 criteria provided, single submitter clinical testing
Invitae RCV001320696 SCV001511491 uncertain significance Bardet-Biedl syndrome 2022-10-24 criteria provided, single submitter clinical testing This variant, c.863_865del, results in the deletion of 1 amino acid(s) of the BBS12 protein (p.Glu288del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs745504524, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with BBS12-related conditions. ClinVar contains an entry for this variant (Variation ID: 551644). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
Fulgent Genetics, Fulgent Genetics RCV000666763 SCV002776754 uncertain significance Bardet-Biedl syndrome 12 2022-03-08 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003420177 SCV004114870 uncertain significance BBS12-related disorder 2024-02-21 criteria provided, single submitter clinical testing The BBS12 c.863_865delAAG variant is predicted to result in an in-frame deletion (p.Glu288del). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.016% of alleles in individuals of African descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Natera, Inc. RCV000666763 SCV002082493 uncertain significance Bardet-Biedl syndrome 12 2021-03-09 no assertion criteria provided clinical testing

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