ClinVar Miner

Submissions for variant NM_015335.5(MED13L):c.1941_1948del (p.Pro648fs)

dbSNP: rs1592941857
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001008587 SCV001168360 pathogenic not provided 2019-02-22 criteria provided, single submitter clinical testing The c.1941_1948delGCCTCCAG variant in the MED13L gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.1941_1948delGCCTCCAG variant causes a frameshift starting with codon Proline 648, changes this amino acid to a Alanine residue, and creates a premature Stop codon at position 4 of the new reading frame, denoted p.Pro648AlafsX4. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.1941_1948delGCCTCCAG variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.1941_1948delGCCTCCAG as a pathogenic variant.

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