ClinVar Miner

Submissions for variant NM_015335.5(MED13L):c.47A>G (p.Asp16Gly)

dbSNP: rs2500191290
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003337954 SCV004048416 uncertain significance Cardiac anomalies - developmental delay - facial dysmorphism syndrome criteria provided, single submitter clinical testing The missense variant in c.47A>G (p.Asp16Gly) in MED13L gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Asn541Asp variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. This variant has not been reported to the ClinVar database. The amino acid Asp at position 16 is changed to a Gly changing protein sequence and it might alter its composition and physico-chemical properties. The variant is predicted to be damaging by SIFT and the residue is conserved across species. The amino acid change p.Asp16Gly in MED13L is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance.

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