ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.6094C>G (p.Pro2032Ala)

dbSNP: rs2092344746
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003763795 SCV001232700 uncertain significance FG syndrome 2019-03-06 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with MED12-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces proline with alanine at codon 2032 of the MED12 protein (p.Pro2032Ala). The proline residue is highly conserved and there is a small physicochemical difference between proline and alanine. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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