ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.33C>A (p.His11Gln)

dbSNP: rs1018272698
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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 RCV003763092 SCV002597050 uncertain significance FG syndrome 2023-01-07 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) performed at Invitae indicates that this missense variant is not expected to disrupt MED12 protein function. ClinVar contains an entry for this variant (Variation ID: 1718535). 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 histidine, which is basic and polar, with glutamine, which is neutral and polar, at codon 11 of the MED12 protein (p.His11Gln).
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003987993 SCV004803955 uncertain significance not specified 2024-01-29 criteria provided, single submitter clinical testing Variant summary: MED12 c.33C>A (p.His11Gln) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant was absent in 176433 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.33C>A in individuals affected with MED12-Related Disorders and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 1718535). Based on the evidence outlined above, the variant was classified as uncertain significance.

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