ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.5834C>G (p.Thr1945Ser)

dbSNP: rs2147830593
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centogene AG - the Rare Disease Company RCV001809148 SCV002059581 uncertain significance X-linked intellectual disability with marfanoid habitus 2020-12-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003761434 SCV004500939 uncertain significance FG syndrome 2023-04-06 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1333933). This variant has not been reported in the literature in individuals affected with MED12-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces threonine, which is neutral and polar, with serine, which is neutral and polar, at codon 1945 of the MED12 protein (p.Thr1945Ser). 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. 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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