ClinVar Miner

Submissions for variant NM_015335.4(MED13L):c.2597C>T (p.Pro866Leu) (rs1555246145)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000498424 SCV000589490 likely pathogenic not provided 2015-10-17 criteria provided, single submitter clinical testing The P866L variant in the MED13L gene has not been published as a pathogenic variant, nor has it been reported as a benign polymorphism to our knowledge. The P866L variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The P866L variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. The P866L variant is a strong candidate for a pathogenic variant however the possibility it may be a rare benign variant cannot be excluded
Autoinflammatory diseases unit,CHU de Montpellier RCV001261220 SCV001438239 likely pathogenic Kabuki-like syndrome 2018-02-19 no assertion criteria provided clinical testing
GenomeConnect - Simons Searchlight RCV001265317 SCV001443434 pathogenic Mental retardation and distinctive facial features with or without cardiac defects 2018-10-22 no assertion criteria provided provider interpretation Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2018-10-22 and interpreted as Pathogenic. Variant was initially reported on 2017-07-26 by GTR ID of laboratory name 26957. The reporting laboratory might also submit to ClinVar.

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