ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.988G>A (p.Asp330Asn)

gnomAD frequency: 0.00002  dbSNP: rs144573829
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001238411 SCV001411218 uncertain significance Bardet-Biedl syndrome 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with asparagine at codon 330 of the BBS2 protein (p.Asp330Asn). The aspartic acid residue is highly conserved and there is a small physicochemical difference between aspartic acid and asparagine. This variant is present in population databases (rs144573829, ExAC 0.01%). This variant has not been reported in the literature in individuals affected with BBS2-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 tolerated. 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. RCV001828902 SCV002089284 uncertain significance Bardet-Biedl syndrome 2 2021-09-17 no assertion criteria provided clinical testing

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