ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.2277-4T>C

gnomAD frequency: 0.00002  dbSNP: rs1064794369
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000483945 SCV000568978 uncertain significance not provided 2015-12-04 criteria provided, single submitter clinical testing The c.2277-4 T>C variant has not beenpublished as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.2277-4 T>Cvariant was not observed in approximately 6,500 individuals of European and African American ancestry in theNHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Severalin-silico splice prediction models predict that c.2277-4 T>C does not impact gene splicing. However, in the absenceof RNA/functional studies, the actual effect of this sequence change in this individual is unknown. Additionally, thissubstitution occurs at a position that is conserved across species. Therefore, based on the currently availableinformation, it is unclear whether this variant is a pathogenic variant or a rare benign variant.

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