ClinVar Miner

Submissions for variant NM_015335.5(MED13L):c.4412_4413del (p.Val1471fs) (rs1592915896)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001008520 SCV001168292 pathogenic not provided 2019-01-04 criteria provided, single submitter clinical testing The c.4412_4413delTG pathogenic variant in the MED13L gene causes a frameshift starting with codon Valine 1471, changes this amino acid to a Glycine residue and creates a premature Stop codon at position 7 of the new reading frame, denoted p.Val1471GlyfsX7. This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.4412_4413delTG variant is not observed in large population cohorts (Lek et al., 2016). Although this pathogenic variant has not been previously reported to our knowledge, its presence is consistent with the diagnosis of an MED13L-related disorder in this individual.

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