ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.6408+1G>A

dbSNP: rs2092347488
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001330019 SCV001521609 pathogenic X-linked intellectual disability with marfanoid habitus 2020-02-10 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV003763963 SCV002254787 likely pathogenic FG syndrome 2023-12-07 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 43 of the MED12 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in MED12 are known to be pathogenic (PMID: 33244165, 33244166). This variant is not present in population databases (gnomAD no frequency). 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: 1028860). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Daryl Scott Lab, Baylor College of Medicine RCV004527422 SCV005038921 likely pathogenic MED12-related disorder 2024-04-26 criteria provided, single submitter clinical testing

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