ClinVar Miner

Submissions for variant NM_015335.4(MED13L):c.878del (p.Pro293fs) (rs1555249561)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000627501 SCV000748501 pathogenic not provided 2018-03-13 criteria provided, single submitter clinical testing The c.878delC variant in the MED13L gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.878delC variant causes a frameshift starting with codon Proline 293, changes this amino acid to an Arginine residue, and creates a premature Stop codon at position 23 of the new reading frame, denoted p.Pro293ArgfsX23. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.878delC variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.878delC as a pathogenic variant consistent with the clinical features reported in this individual.

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