ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.2374dup (p.Thr792fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001008782 SCV001168573 likely pathogenic not provided 2019-03-08 criteria provided, single submitter clinical testing A variant that is likely pathogenic has been identified in the CDKL5 gene. The c.2374dupA variant has been reported previously in association with a CDKL5-related disorder (Fehr et al., 2013). The duplication causes a frameshift starting with codon Threonin 792, changes this amino acid to a Asparagine residue and creates a premature Stop codon at position 9 of the new reading frame, denoted p.Thr792AsnfsX9. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Furthermore, the c.2374dupA variant is not observed in large population cohorts (Lek et al., 2016). Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.

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