ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.2545T>C (p.Ser849Pro) (rs1135401775)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg RCV000496123 SCV000586719 uncertain significance X-linked mental retardation with marfanoid habitus syndrome; FG syndrome 1; Ohdo syndrome, X-linked 2017-08-01 criteria provided, single submitter clinical testing De novo missense variant identified in a female with severe ID, behavioral anomalies. Mutations in MED12 have been reported with different, syndromic X-linked recessive ID disorders . In the light of the recent identification of de novo mutations in initially X-linked recessive genes in severely affected females this variant might be pathogenic in a girl, but remains unclear at the moment.

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