ClinVar Miner

Submissions for variant NM_152618.3(BBS12):c.1459A>G (p.Arg487Gly) (rs772894742)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000196254 SCV000255213 uncertain significance Bardet-Biedl syndrome 2015-04-15 criteria provided, single submitter clinical testing This sequence change replaces arginine with glycine at codon 487 of the BBS12 protein (p.Arg487Gly). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and glycine. This variant has not been published in the literature and is present in population databases (rs376531209, 0.02%). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies. In summary, this is a rare missense change that is not predicted to affect protein function or cause disease. However the evidence is insufficient at this time to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.
Counsyl RCV000665030 SCV000789085 uncertain significance Bardet-Biedl syndrome 12 2017-01-05 criteria provided, single submitter clinical testing

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