ClinVar Miner

Submissions for variant NM_015335.4(MED13L):c.5083dup (p.Ser1695fs) (rs1555243086)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000483420 SCV000566138 pathogenic not provided 2015-04-02 criteria provided, single submitter clinical testing The c.5083dupT variant in the MED13L gene has not been reported previously as a pathogenic variant nor as a benign polymorphism, to our knowledge. The c.5083dupT variant causes a frameshiftstarting with codon Serine 1695, changes this amino acid to a Phenylalanine residue and creates apremature Stop codon at position 19 of the new reading frame, denoted p.S1695FfsX19. This duplication ispredicted to cause loss of normal protein function either through protein truncation or nonsense-mediatedmRNA decay. The c.5083dupT variant was not observed in approximately 6500 individuals of Europeanand African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a commonbenign variant in these populations. We interpret c.5083dupT as a pathogenic variant.

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