ClinVar Miner

Submissions for variant NM_015335.5(MED13L):c.2090_2091insGAGCCACT (p.Asp697fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV001095760 SCV001251603 pathogenic MED13L-related neurodevelopmental disorder 2020-02-17 criteria provided, single submitter clinical testing The MED13L c.2090_2091insGAGCCACT (p.Asp697GlufsTer19) variant results in a frameshift and is predicted to result in premature termination of the protein. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. This variant is not found in the Genome Aggregation Database in a region of good sequence coverage, so the variant is presumed to be rare. Based on the predicted truncating nature of the variant in a gene for which haploinsufficiency is an established disease mechanism (Cafiero et al. 2015; Torring et al. 2019), its rarity, identification in a de novo state, and application of the ACMG criteria, the p.Asp697GlufsTer19 variant is classified as pathogenic for MED13L-related neurodevelopmental disorder.

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