ClinVar Miner

Submissions for variant NM_031885.4(BBS2):c.766G>A (p.Gly256Arg) (rs886052147)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000305514 SCV000398066 uncertain significance Bardet-Biedl syndrome 2016-06-14 criteria provided, single submitter clinical testing
Counsyl RCV000674764 SCV000800157 uncertain significance Bardet-Biedl syndrome 2 2018-05-23 criteria provided, single submitter clinical testing
Invitae RCV000305514 SCV001217033 uncertain significance Bardet-Biedl syndrome 2019-12-17 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 256 of the BBS2 protein (p.Gly256Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with BBS2-related conditions. ClinVar contains an entry for this variant (Variation ID: 319863). 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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. RCV000674764 SCV001457442 uncertain significance Bardet-Biedl syndrome 2 2020-09-16 no assertion criteria provided clinical testing

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