ClinVar Miner

Submissions for variant NM_015335.5(MED13L):c.3090_3093del (p.Ser1031fs) (rs1555245254)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000599391 SCV000710633 likely pathogenic not provided 2018-02-07 criteria provided, single submitter clinical testing The c.3090_3093delCAGC variant causes a frameshift starting with codon Serine 103, changes this amino acid to an Isoleucine residue, and creates a premature Stop codon at position 82 of the new reading frame, denoted p.Ser1031IlefsX82. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. This variant is not observed in large population cohorts (Lek et al., 2016). Although the c.3090_3093delCAGC variant has not been reported previously to our knowledge, other frameshift variants in the MED13L gene have been reported in the Human Gene Mutation Database in association with MED13L-related disorders (Stenson et al., 2014).

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