ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.6288GCA[9] (p.Gln2114_Gln2115dup)

dbSNP: rs766775649
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000824717 SCV000230630 uncertain significance not provided 2016-08-15 criteria provided, single submitter clinical testing
GeneDx RCV000824717 SCV000571233 likely benign not provided 2020-08-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003595877 SCV000835210 uncertain significance FG syndrome 2024-12-23 criteria provided, single submitter clinical testing This variant, c.6303_6308dup, results in the insertion of 2 amino acid(s) of the MED12 protein (p.Gln2114_Gln2115dup), but otherwise preserves the integrity of the reading frame. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with MED12-related conditions. ClinVar contains an entry for this variant (Variation ID: 197488). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
Ambry Genetics RCV002362919 SCV002656682 likely benign Familial thoracic aortic aneurysm and aortic dissection 2021-07-27 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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