ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.1909A>T (p.Met637Leu)

gnomAD frequency: 0.00005  dbSNP: rs967941621
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001318782 SCV001509496 uncertain significance Bardet-Biedl syndrome 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces methionine with leucine at codon 637 of the BBS2 protein (p.Met637Leu). The methionine residue is highly conserved and there is a small physicochemical difference between methionine and leucine. 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 (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.
Fulgent Genetics, Fulgent Genetics RCV002486260 SCV002788510 uncertain significance Bardet-Biedl syndrome 2; Retinitis pigmentosa 74 2022-01-03 criteria provided, single submitter clinical testing
Natera, Inc. RCV001835592 SCV002089258 uncertain significance Bardet-Biedl syndrome 2 2020-06-04 no assertion criteria provided clinical testing

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