ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.5585G>A (p.Arg1862His)

gnomAD frequency: 0.00002  dbSNP: rs773713291
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003762768 SCV000630356 uncertain significance FG syndrome 2023-08-23 criteria provided, single submitter clinical testing 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on MED12 protein function. ClinVar contains an entry for this variant (Variation ID: 458820). This variant has not been reported in the literature in individuals affected with MED12-related conditions. This variant is present in population databases (rs773713291, gnomAD 0.008%), including at least one homozygous and/or hemizygous individual. This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 1862 of the MED12 protein (p.Arg1862His).
Ambry Genetics RCV002350202 SCV002647351 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2022-03-04 criteria provided, single submitter clinical testing The p.R1862H variant (also known as c.5585G>A), located in coding exon 39 of the MED12 gene, results from a G to A substitution at nucleotide position 5585. The arginine at codon 1862 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen RCV003457718 SCV004184913 uncertain significance not provided 2023-11-01 criteria provided, single submitter clinical testing

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