ClinVar Miner

Submissions for variant NM_198428.3(BBS9):c.145C>G (p.Leu49Val)

gnomAD frequency: 0.00002  dbSNP: rs777409972
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001210787 SCV001382293 uncertain significance Bardet-Biedl syndrome 2022-05-31 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 49 of the BBS9 protein (p.Leu49Val). This variant is present in population databases (rs777409972, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with BBS9-related conditions. ClinVar contains an entry for this variant (Variation ID: 941074). 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 disruptive. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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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