ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.1249G>A (p.Val417Ile)

dbSNP: rs2147783166
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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 RCV003597418 SCV003282357 uncertain significance FG syndrome 2022-02-27 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 417 of the MED12 protein (p.Val417Ile). This variant has not been reported in the literature in individuals affected with MED12-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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.
Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences RCV002223141 SCV002499637 pathogenic Dilated cardiomyopathy 1Y no assertion criteria provided research The MED12 gene encodes a mediator complex subunit 12 protein. MED12 acts as a transcriptional hub required to coordinate development. Due to the study of Baskin et al., 2017 (PMID: 28724790), they reported that MED12 is required for normal cardiac function, such that mice with mutation of MED12 displays progressive dilated cardiomyopathy. The inheritance pattern of this gene is X-linked recessive.

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