ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.628G>C (p.Ala210Pro) (rs1379201163)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000678351 SCV000804415 uncertain significance X-linked mental retardation with marfanoid habitus syndrome; FG syndrome 1; Ohdo syndrome, X-linked 2017-11-27 criteria provided, single submitter provider interpretation This 6 year old male with autism spectrum disorder was found to carry a maternally inherited missense variant in the MED12 gene. He is non-dysmorphic and normocephalic. Dysmorphic features are common in MED12-Related disorders, as is intellectual disability, which is not currently a concern for this child. Carrier females are typically unaffected, and this patient's mother does not have any neurodevelopmental concerns. The variant is absent from population databases and has not been reported previously in affected individuals, to our knowledge. Computational models predict the variant to be benign. A different, semi-conservative missense variant at the same amino acid residue is present in gnomAD at a very low frequency (0.001%).

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