ClinVar Miner

Submissions for variant NM_152618.3(BBS12):c.2114C>T (p.Thr705Met)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001064728 SCV001229646 uncertain significance Bardet-Biedl syndrome 2019-12-31 criteria provided, single submitter clinical testing This sequence change replaces threonine with methionine at codon 705 of the BBS12 protein (p.Thr705Met). The threonine residue is weakly conserved and there is a moderate physicochemical difference between threonine and methionine. This variant is present in population databases (rs372102223, ExAC 0.01%). This variant has not been reported in the literature in individuals with BBS12-related disease. 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: "Tolerated"; PolyPhen-2: "Benign"; 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.

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