ClinVar Miner

Submissions for variant NM_024685.4(BBS10):c.1211A>G (p.His404Arg)

gnomAD frequency: 0.00001  dbSNP: rs964776134
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001042472 SCV001206154 uncertain significance Bardet-Biedl syndrome 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces histidine with arginine at codon 404 of the BBS10 protein (p.His404Arg). The histidine residue is weakly 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 BBS10-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. RCV001832410 SCV002091772 uncertain significance Bardet-Biedl syndrome 10 2020-02-21 no assertion criteria provided clinical testing

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