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.1579C>T (p.Pro527Ser)

CA412361753

590134 (ClinVar)

Gene: CDKL5
Condition: CDKL5 disorder
Inheritance Mode: X-linked inheritance
Link to MONDO
UUID: 195acd73-f998-4ce4-af7b-24705f7e18f6
Approved on: 2023-02-20
Published on: 2023-12-08

HGVS expressions

NM_001323289.2:c.1579C>T
NM_001323289.2(CDKL5):c.1579C>T (p.Pro527Ser)
NC_000023.11:g.18604503C>T
CM000685.2:g.18604503C>T
NC_000023.10:g.18622623C>T
CM000685.1:g.18622623C>T
NC_000023.9:g.18532544C>T
NG_008475.1:g.183899C>T
ENST00000623535.2:c.1579C>T
ENST00000635828.1:c.1579C>T
ENST00000674046.1:c.1579C>T
ENST00000379989.6:c.1579C>T
ENST00000379996.7:c.1579C>T
ENST00000463994.4:c.1579C>T
ENST00000623535.1:c.1579C>T
NM_001037343.1:c.1579C>T
NM_003159.2:c.1579C>T
NM_001323289.1:c.1579C>T
NM_001037343.2:c.1579C>T
NM_003159.3:c.1579C>T

Likely Benign

Met criteria codes 2
BS2_Supporting BS1
Not Met criteria codes 4
PS4 PP3 PM1 BP4

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.Pro527Ser variant in CDKL5 is 0.017% in African sub population in gnomAD, which is high enough to meet the BS1 criteria based on thresholds defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like conditions (BS1). The p.Pro527Ser variant is observed in at least 1 unaffected individual (internal database - Invitae) (BS2_supporting). In summary, the p.Pro527Ser variant in CDKL5 is classified as a Likely Benign based on the ACMG/AMP criteria (BS1, BS2_supporting).
Met criteria codes
BS2_Supporting
The p.Pro527Ser variant is observed in at least 1 unaffected individual (internal database - Invitae) (BS2_supporting).
BS1
The allele frequency of the p.Pro527Ser variant in CDKL5 is 0.017% in African sub population in gnomAD, which is high enough to meet the BS1 criteria based on thresholds defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like conditions (BS1).
Not Met criteria codes
PS4
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
PM1
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
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