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]
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Variant: NM_001323289.2(CDKL5):c.1930C>T (p.Leu644Phe)

CA16608795

393097 (ClinVar)

Gene: CDKL5
Condition: CDKL5 disorder
Inheritance Mode: X-linked inheritance
Link to MONDO
UUID: 5b63fcee-8ee0-427e-977d-e2106ba134a9
Approved on: 2023-02-20
Published on: 2023-03-31

HGVS expressions

NM_001323289.2:c.1930C>T
NM_001323289.2(CDKL5):c.1930C>T (p.Leu644Phe)
NC_000023.11:g.18604854C>T
CM000685.2:g.18604854C>T
NC_000023.10:g.18622974C>T
CM000685.1:g.18622974C>T
NC_000023.9:g.18532895C>T
NG_008475.1:g.184250C>T
ENST00000623535.2:c.1930C>T
ENST00000635828.1:c.1930C>T
ENST00000674046.1:c.1930C>T
ENST00000379989.6:c.1930C>T
ENST00000379996.7:c.1930C>T
ENST00000463994.4:c.1930C>T
ENST00000623535.1:n.1930C>T
NM_001037343.1:c.1930C>T
NM_003159.2:c.1930C>T
NM_001323289.1:c.1930C>T
NM_001037343.2:c.1930C>T
NM_003159.3:c.1930C>T

Uncertain Significance

Met criteria codes 1
PM2_Supporting
Not Met criteria codes 4
BA1 BP4 BS1 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 Version 2

Criteria Specification Approval History
Criteria Specifications for this VCEP
Evidence submitted by expert panel
Rett and Angelman-like Disorders VCEP
The p.Leu644Phe variant in CDKL5 is absent from gnomAD (PM2_Supporting). In summary, the p.Leu644Phe variant in CDKL5 is classified as Uncertain significance based on the ACMG/AMP criteria (VUS).
Met criteria codes
PM2_Supporting
The p.Leu644Phe variant in CDKL5 is absent from gnomAD.
Not Met criteria codes
BA1
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BP4
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BS1
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PP3
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
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