ClinVar Miner

Submissions for variant NM_152618.3(BBS12):c.1859A>G (p.Gln620Arg) (rs139278612)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000499698 SCV000593595 uncertain significance not specified 2016-12-23 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000709681 SCV000744985 uncertain significance Bardet-Biedl syndrome 1 2016-07-01 criteria provided, single submitter clinical testing
Invitae RCV000625333 SCV000759869 uncertain significance Bardet-Biedl syndrome 2019-12-02 criteria provided, single submitter clinical testing This sequence change replaces glutamine with arginine at codon 620 of the BBS12 protein (p.Gln620Arg). The glutamine residue is highly conserved and there is a small physicochemical difference between glutamine and arginine. This variant is present in population databases (rs139278612, ExAC 0.09%). This variant has been reported in an individual affected with Bardet-Biedl syndrome, however this individual also had two variants in BBS6 (PMID: 22773737). ClinVar contains an entry for this variant (Variation ID: 434490). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.
Illumina Clinical Services Laboratory,Illumina RCV001145003 SCV001305634 uncertain significance Bardet-Biedl syndrome 12 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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