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.1722G>A (p.Pro574=)

CA209032

210643 (ClinVar)

Gene: CDKL5
Condition: CDKL5 disorder
Inheritance Mode: X-linked inheritance
Link to MONDO
UUID: fba2c948-8d64-4381-abb6-5a41773d9c59

HGVS expressions

NM_001323289.2:c.1722G>A
NM_001323289.2(CDKL5):c.1722G>A (p.Pro574=)
NC_000023.11:g.18604646G>A
CM000685.2:g.18604646G>A
NC_000023.10:g.18622766G>A
CM000685.1:g.18622766G>A
NC_000023.9:g.18532687G>A
NG_008475.1:g.184042G>A
ENST00000623535.2:c.1722G>A
ENST00000635828.1:c.1722G>A
ENST00000674046.1:c.1722G>A
ENST00000379989.6:c.1722G>A
ENST00000379996.7:c.1722G>A
ENST00000463994.4:c.1722G>A
ENST00000623535.1:n.1722G>A
NM_001037343.1:c.1722G>A
NM_003159.2:c.1722G>A
NM_001323289.1:c.1722G>A
NM_001037343.2:c.1722G>A
NM_003159.3:c.1722G>A

Benign

Met criteria codes 2
BA1 BP7

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.Pro574= variant in CDKL5 in South Asian sub population in gnomAD, which is high enough to be classified as benign based on the thresholds defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like conditions (BA1). The silent p.Pro574 variant is not predicted to affect splicing using multiple computational tools and does not affect a highly conserved nucleotide (BP7). In summary, the p.Pro574= variant in CDKL5 is classified as Benign based on the ACMG/AMP criteria (BA1, BP7).
Met criteria codes
BA1
The allele frequency of the p.Pro574= variant in CDKL5 in South Asian sub population in gnomAD, which is high enough to be classified as benign based on the thresholds defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like conditions
BP7
The silent p.Pro574 variant is not predicted to affect splicing using multiple computational tools and does not affect a highly conserved nucleotide.
Approved on: 2023-02-20
Published on: 2023-03-31
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