ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.1208G>T (p.Arg403Leu)

dbSNP: rs192007013
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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 RCV001897795 SCV002153245 uncertain significance Bardet-Biedl syndrome 2022-02-03 criteria provided, single submitter clinical testing 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. 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. This variant has not been reported in the literature in individuals affected with BBS2-related conditions. This variant is present in population databases (no rsID available, gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with leucine, which is neutral and non-polar, at codon 403 of the BBS2 protein (p.Arg403Leu).
Fulgent Genetics, Fulgent Genetics RCV002482658 SCV002779209 uncertain significance Bardet-Biedl syndrome 2; Retinitis pigmentosa 74 2022-03-08 criteria provided, single submitter clinical testing

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