ClinVar Miner

Submissions for variant NM_015335.5(MED13L):c.6461dup (p.His2155fs) (rs1592890905)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001008273 SCV001168039 likely pathogenic not provided 2018-07-27 criteria provided, single submitter clinical testing A variant that is likely pathogenic has been identified in the MED13L gene. The c.6461dupC variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. This variant is not observed in large population cohorts (Lek et al., 2016). The c.6461dupC variant causes a frameshift starting with codon Histidine 2155, changes this amino acid to a Threonine residue, and creates a premature Stop codon at position 4 of the new reading frame, denoted p.His2155ThrfsX4. This variant is predicted to cause loss of normal protein function through protein truncation, as the last 56 amino acids are replaced with 3 incorrect amino acids. Therefore, the c.6461dupC variant is likely pathogenic.

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