ClinVar Miner

Submissions for variant NM_015335.5(MED13L):c.4577del (p.Pro1526fs)

dbSNP: rs1057518262
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000413201 SCV000491735 pathogenic not provided 2016-11-08 criteria provided, single submitter clinical testing The c.4577delC pathogenic variant in the MED13L gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.4577delC variant causes a frameshift starting with codon Proline 1526, changes this amino acid to a Histidine residue, and creates a premature Stop codon at position 23 of the new reading frame, denoted p.Pro1526HisfsX23. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.4577delC variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret c.4577delC as a pathogenic variant.

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