ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.6128G>A (p.Arg2043His)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003764317 SCV004530521 benign FG syndrome 2023-12-13 criteria provided, single submitter clinical testing
Neuberg Centre For Genomic Medicine, NCGM RCV004720400 SCV005329401 uncertain significance X-linked intellectual disability with marfanoid habitus 2023-05-20 criteria provided, single submitter clinical testing The observed missense variant c.6128G>A (p.Arg2043His) in the MED12 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is reported with the allele frequency 0.003% in the gnomAD Exomes. The amino acid Arginine at position 2043 is changed to a Histidine changing protein sequence and it might alter its composition and physico-chemical properties. Multiple lines of computational evidence (Polyphen - Probably Damaging and MutationTaster - Disease causing) predict a damaging effect on protein structure and function for this variant. The residue is conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance.

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