ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.1546del (p.Tyr516fs) (rs1555952063)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000598749 SCV000710130 pathogenic not provided 2017-12-07 criteria provided, single submitter clinical testing The c.1546delT pathogenic variant causes a frameshift starting with codon Tyrosine 516, changes this amino acid to a Threonine residue and creates a premature Stop codon at position 7 of the newreading frame, denoted p.Tyr516ThrfsX7. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.1546delT variant is not observed in large population cohorts (Lek et al., 2016). Although this variant has not been previously reported to our knowledge, other loss-of-function variants in CDKL5 have been reported in the Human Gene Mutation Database in association with CDKL5-related disorders (Stenson et al., 2014). The presence of c.1546delT is consistent with the diagnosis of a CDKL5-related disorder in this individual.

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