Evidence Repository
The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]
  • No CSPEC related information was provided by the message!
  • No Criteria Specification was provided in the publication event for the variant classifaction.
  • The Criteria Specification shown below is a best-estimate based on the VCEP, gene, disease, and publication date.

Variant: NM_001323289.2(CDKL5):c.2555C>T (p.Pro852Leu)

CA294764

156690 (ClinVar)

Gene: CDKL5 (HGNC:6792)
Condition: CDKL5 disorder (MONDO:0100039)
Inheritance Mode: X-linked inheritance
UUID: 8068e478-0128-4e9e-ba26-c670045b3859
Approved on: 2023-04-14
Published on: 2023-06-16

HGVS expressions

NM_001323289.2:c.2555C>T
NM_001323289.2(CDKL5):c.2555C>T (p.Pro852Leu)
NC_000023.11:g.18628429C>T
CM000685.2:g.18628429C>T
NC_000023.10:g.18646549C>T
CM000685.1:g.18646549C>T
NC_000023.9:g.18556470C>T
NG_008475.1:g.207825C>T
ENST00000623535.2:c.2555C>T
ENST00000674046.1:c.2678C>T
ENST00000379989.6:c.2555C>T
ENST00000379996.7:c.2555C>T
ENST00000623535.1:n.2555C>T
NM_001037343.1:c.2555C>T
NM_003159.2:c.2555C>T
NM_001323289.1:c.2555C>T
NM_001037343.2:c.2555C>T
NM_003159.3:c.2555C>T
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Benign

Met criteria codes 1
BA1

Evidence Links 0

Expert Panel

Criteria Specification Information

Criteria Specifications for this VCEP
Evidence submitted by expert panel
Rett and Angelman-like Disorders VCEP
The allele frequency of the p.Pro852Leu variant in CDKL5 is 0.031% in African sub population in gnomAD, which is high enough to be classified as benign based on thresholds defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like conditions (BA1). In summary, the p.Pro852Leu variant in CDKL5 is classified as benign based on the ACMG/AMP criteria (BA1).
Met criteria codes
BA1
The allele frequency of the p.Pro852Leu variant in CDKL5 is 0.031% in African sub population in gnomAD, which is high enough to be classified as benign based on thresholds defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like conditions. (BA1)
Curation History
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