ClinVar Miner

Submissions for variant NM_015335.5(MED13L):c.2243A>G (p.Glu748Gly)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
University of Washington Department of Laboratory Medicine, University of Washington RCV005255947 SCV005908262 uncertain significance Cardiac anomalies - developmental delay - facial dysmorphism syndrome 2022-06-16 criteria provided, single submitter clinical testing The p.Glu748Gly variant in the MED13L gene was identified de novo in this individual, but has not been previously reported in association with disease. It is located in exon 12 of 31 exons. The p.Glu748Gly variant was absent from large population databases, including the Genome Aggregation Database (http://gnomad.broadinstitute.org/). In silico tools do not consistently predict if this variant impacts protein function. Using ACMG guidelines, this variant was classified as a variant of uncertain significance (ACMG evidence codes used: PS2_supporting, PM2_supporting).

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