ClinVar Miner

Submissions for variant NM_031885.4(BBS2):c.1885G>A (p.Glu629Lys) (rs746505864)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665367 SCV000789478 uncertain significance Bardet-Biedl syndrome 2 2017-02-08 criteria provided, single submitter clinical testing
Invitae RCV001037054 SCV001200449 uncertain significance Bardet-Biedl syndrome 2019-12-05 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 629 of the BBS2 protein (p.Glu629Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is present in population databases (rs746505864, ExAC 0.007%). This variant has been observed in individual(s) with Bardet-Biedl syndrome (PMID: 20120035). ClinVar contains an entry for this variant (Variation ID: 550587). 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. 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. RCV000665367 SCV001457431 uncertain significance Bardet-Biedl syndrome 2 2020-09-16 no assertion criteria provided clinical testing

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