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]
  • Gene obtained from curated document aligns with the Allele Registry but not with ClinVar data
  • No CSPEC computed assertion could be determined for this classification!

Variant: NM_001323289.2(CDKL5):c.199C>T (p.Leu67Phe)

CA170464

143791 (ClinVar)

Gene: CDKL5
Condition: CDKL5 disorder
Inheritance Mode: X-linked inheritance
Link to MONDO
UUID: 0ef86c02-c036-4ece-a1dc-0eb78ac1b1b9
Approved on: 2025-05-07
Published on: 2025-06-30

HGVS expressions

NM_001323289.2:c.199C>T
NM_001323289.2(CDKL5):c.199C>T (p.Leu67Phe)
NC_000023.11:g.18575407C>T
CM000685.2:g.18575407C>T
NC_000023.10:g.18593527C>T
CM000685.1:g.18593527C>T
NC_000023.9:g.18503448C>T
NG_008475.1:g.154803C>T
ENST00000623535.2:c.199C>T
ENST00000635828.1:c.199C>T
ENST00000637881.1:c.199C>T
ENST00000674046.1:c.199C>T
ENST00000379989.6:c.199C>T
ENST00000379996.7:c.199C>T
ENST00000463994.4:c.199C>T
ENST00000623535.1:c.199C>T
ENST00000624700.3:c.199C>T
NM_001037343.1:c.199C>T
NM_003159.2:c.199C>T
NM_001323289.1:c.199C>T
NM_001037343.2:c.199C>T
NM_003159.3:c.199C>T
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Uncertain Significance

Met criteria codes 2
PM2_Supporting PP3

Evidence Links 0

Expert Panel

Criteria Specification Information

Criteria Specification: ClinGen Rett and Angelman-like Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for CDKL5 Version 4.1.0

Criteria Specification Approval History
Criteria Specifications for this VCEP
Evidence submitted by expert panel
Rett and Angelman-like Disorders VCEP
The p.Leu67Phe variant in CDKL5 is absent from gnomAD v4.1 (PM2_Supporting). Computational prediction analysis tools suggests a deleterious impact; however, this information does not predict clinical significance on its own (PP3). The p.Leu67Phe variant is not currently published and is not present in additional databases (internal and publicly available), therefore, no additional criteria are applicable at this time. In summary, the p.Leu67Phe variant in CDKL5 is classified as a variant of uncertain significance based on the ACMG/AMP criteria (PM2_supporting, PP3). (CDKL5 Specifications v.4.1; curation approved on [5/7/2025])
Met criteria codes
PM2_Supporting
The p.Leu67Phe variant in CDKL5 is absent from gnomAD v4.1 (PM2_Supporting).
PP3
Computational prediction analysis tools suggests a deleterious impact; however, this information does not predict clinical significance on its own.
Curation History
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