ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.35A>G (p.His12Arg)

dbSNP: rs1238233777
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001242913 SCV001416034 uncertain significance Bardet-Biedl syndrome 2021-08-26 criteria provided, single submitter clinical testing This sequence change replaces histidine with arginine at codon 12 of the BBS2 protein (p.His12Arg). The histidine residue is highly conserved and there is a small physicochemical difference between histidine and arginine. This variant is not present in population databases (ExAC no frequency). 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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. RCV001835146 SCV002089315 uncertain significance Bardet-Biedl syndrome 2 2020-07-28 no assertion criteria provided clinical testing

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