ClinVar Miner

Submissions for variant NM_152618.3(BBS12):c.1237C>G (p.Leu413Val) (rs758217005)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000512649 SCV000609147 uncertain significance not provided 2017-03-01 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,Institute for Ophthalmic Research RCV001047657 SCV001162416 pathogenic Bardet-Biedl syndrome 2020-01-09 criteria provided, single submitter research
Invitae RCV001047657 SCV001211628 uncertain significance Bardet-Biedl syndrome 2019-12-28 criteria provided, single submitter clinical testing This sequence change replaces leucine with valine at codon 413 of the BBS12 protein (p.Leu413Val). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and valine. This variant is present in population databases (rs758217005, ExAC 0.006%). This variant has not been reported in the literature in individuals with BBS12-related conditions. ClinVar contains an entry for this variant (Variation ID: 444641). 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: "Probably 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.
Blueprint Genetics RCV001073517 SCV001239064 uncertain significance Retinal dystrophy 2019-04-26 criteria provided, single submitter clinical testing

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