ClinVar Miner

Submissions for variant NM_033028.5(BBS4):c.1013G>T (p.Gly338Val)

dbSNP: rs750983167
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001229021 SCV001401452 uncertain significance Bardet-Biedl syndrome 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces glycine with valine at codon 338 of the BBS4 protein (p.Gly338Val). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and valine. This variant is present in population databases (rs750983167, ExAC 0.02%). This variant has not been reported in the literature in individuals affected with BBS4-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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 RCV002484249 SCV002788009 uncertain significance Bardet-Biedl syndrome 4 2022-03-07 criteria provided, single submitter clinical testing

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