ClinVar Miner

Submissions for variant NM_024685.4(BBS10):c.380A>G (p.Lys127Arg)

gnomAD frequency: 0.00001  dbSNP: rs936655028
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001054267 SCV001218572 uncertain significance Bardet-Biedl syndrome 2022-07-26 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 850160). This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 127 of the BBS10 protein (p.Lys127Arg). This variant is present in population databases (no rsID available, gnomAD 0.008%). 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.

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