ClinVar Miner

Submissions for variant NM_024649.5(BBS1):c.1628G>A (p.Gly543Glu)

dbSNP: rs778941006
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001351866 SCV001546370 uncertain significance Bardet-Biedl syndrome 2021-08-24 criteria provided, single submitter clinical testing This sequence change replaces glycine with glutamic acid at codon 543 of the BBS1 protein (p.Gly543Glu). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and glutamic acid. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with BBS1-related conditions. 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 disruptive. 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.
Natera, Inc. RCV001831178 SCV002094776 uncertain significance Bardet-Biedl syndrome 1 2021-05-26 no assertion criteria provided clinical testing

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