ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.6017A>C (p.Tyr2006Ser) (rs769232520)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000502755 SCV000595758 uncertain significance not specified 2016-10-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV000621099 SCV000739166 uncertain significance Cardiovascular phenotype 2017-06-16 criteria provided, single submitter clinical testing Insufficient evidence
Ambry Genetics RCV000624603 SCV000742975 uncertain significance Inborn genetic diseases 2017-09-28 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: UNCERTAIN: Alteration(s) of Uncertain Clinical Significance Detected
Invitae RCV000633694 SCV000754961 uncertain significance FG syndrome 1 2017-11-18 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with serine at codon 2006 of the MED12 protein (p.Tyr2006Ser). The tyrosine residue is highly conserved and there is a large physicochemical difference between tyrosine and serine. This variant is present in population databases (rs769232520, ExAC 0.002%). This variant has not been reported in the literature in individuals with MED12-related disease. ClinVar contains an entry for this variant (Variation ID: 435845). 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, 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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