ClinVar Miner

Submissions for variant NM_015335.4(MED13L):c.2333C>T (p.Ala778Val) (rs1555247422)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000519307 SCV000621005 uncertain significance not provided 2017-09-28 criteria provided, single submitter clinical testing The A778V variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The A778V variant is not observed in large population cohorts (Lek et al., 2016). This variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is not conserved. However, in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function.
Service de Génétique Moléculaire,Hôpital Robert Debré RCV001256984 SCV001433530 likely pathogenic Rare genetic intellectual disability no assertion criteria provided clinical testing

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