ClinVar Miner

Submissions for variant NM_033028.5(BBS4):c.1462A>G (p.Thr488Ala)

gnomAD frequency: 0.00003  dbSNP: rs746070171
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001359360 SCV001555224 uncertain significance Bardet-Biedl syndrome 2022-10-13 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 488 of the BBS4 protein (p.Thr488Ala). This variant is present in population databases (rs746070171, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with BBS4-related conditions. ClinVar contains an entry for this variant (Variation ID: 1051338). 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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