ClinVar Miner

Submissions for variant NM_152618.3(BBS12):c.1139C>T (p.Thr380Ile) (rs752254471)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000584997 SCV000693158 uncertain significance not provided 2017-07-01 criteria provided, single submitter clinical testing
Counsyl RCV000665631 SCV000789784 uncertain significance Bardet-Biedl syndrome 12 2017-02-21 criteria provided, single submitter clinical testing
Invitae RCV000168458 SCV000219157 uncertain significance Bardet-Biedl syndrome 2014-10-30 no assertion criteria provided clinical testing This sequence change replaces threonine with isoleucine at codon 380 of the BBS12 protein (p.Thr380Ile). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and isoleucine. This sequence change has not been published in the literature and is present in population databases (0.015%, Exome Aggregation Consortium, URL: http://exac.broadinstitute.org, [11, 2014]). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "deleterious"; PolyPhen-2: "probably damaging”; Align-GVGD: "Class C0"). In summary, this is a rare missense change with uncertain impact on protein function. Although there is no indication that this sequence change causes disease, the evidence is insufficient at this time to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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