Evidence Repository - Clinical Genome Resources

The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]

Variant: NM_001323289.2(CDKL5):c.290T>C (p.Leu97Pro)

CA412349776

870171 (ClinVar)

Gene: CDKL5 (HGNC:6792)

Condition: CDKL5 disorder (MONDO:0100039)

Inheritance Mode: X-linked inheritance

UUID: 417c9128-ca8a-4527-b13a-9798da802bd0

Approved on: 2023-04-14

Published on: 2023-06-16

HGVS expressions

NM_001323289.2(CDKL5):c.290T>C (p.Leu97Pro)

NM_001323289.2:c.290T>C

NC_000023.11:g.18579855T>C

CM000685.2:g.18579855T>C

NC_000023.10:g.18597975T>C

CM000685.1:g.18597975T>C

NC_000023.9:g.18507896T>C

NG_008475.1:g.159251T>C

ENST00000623535.2:c.290T>C

ENST00000635828.1:c.290T>C

ENST00000637881.1:c.290T>C

ENST00000674046.1:c.290T>C

ENST00000379989.6:c.290T>C

ENST00000379996.7:c.290T>C

ENST00000463994.4:c.290T>C

ENST00000623535.1:n.290T>C

NM_001037343.1:c.290T>C

NM_003159.2:c.290T>C

NM_001323289.1:c.290T>C

NM_001037343.2:c.290T>C

NM_003159.3:c.290T>C

Likely Pathogenic

PM2_Supporting PS2 PP3

Evidence Links 0

Expert Panel

Rett and Angelman-like Disorders VCEP

Criteria Specification Information

Criteria Specifications for this VCEP

Evidence submitted by expert panel

Rett and Angelman-like Disorders VCEP

The p.Leu97Pro variant in CDKL5 occurs in the de novo state (biological parentage confirmed) in an individual (GeneDx Internal Database) (PS2). The p.Leu97Pro variant in CDKL5 is absent from gnomAD (PM2_supporting). Computational prediction analysis tools suggests a deleterious impact; however, this information does not predict clinical significance on its own (PP3). In summary, the p.Leu97Pro variant in CDKL5 is classified as likely pathogenic for a CDKL5-related disorder based on the ACMG/AMP criteria (PS2, PM2_supporting, PP3).

PM2_Supporting

The p.Leu97Pro variant in CDKL5 is absent from gnomAD

PS2

The p.Leu97Pro variant in CDKL5 occurs in the de novo state (biological parentage confirmed) in an individual (GeneDx Internal Database)

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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