ClinVar Miner

Submissions for variant NM_015335.5(MED13L):c.34del (p.Ala12fs) (rs1593238375)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001008837 SCV001168641 pathogenic not provided 2016-12-30 criteria provided, single submitter clinical testing The c.34delG variant in the MED13L gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. It was not observed in the large population cohort in the Exome Aggregation Consortium (ExAC). The c.34delG variant causes a frameshift starting with codon Alanine 12, changes this amino acid to an Arginine residue, and creates a premature Stop codon at position 35 of the new reading frame, denoted p.Ala12ArgfsX35. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Therefore, the presence of this pathogenic variant is consistent with a diagnosis of an MED13L-related disorder.

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