ClinVar Miner

Submissions for variant NM_015335.5(MED13L):c.2114C>G (p.Pro705Arg)

dbSNP: rs2137378723
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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 RCV001823433 SCV002072863 uncertain significance Cardiac anomalies - developmental delay - facial dysmorphism syndrome criteria provided, single submitter clinical testing The missense variant p.P705R in MED13L (NM_015335.5) has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.P705R variant is novel (not in any individuals) in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. The p.P705R missense variant is predicted to be damaging by both SIFT and PolyPhen2. The nucleotide c.2114 in MED13L is predicted conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance.

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