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.2151A>G (p.Arg717=)

Curation Version - 1.0
Curation History
JSON LD for Version 1.0

CA10605540

286706 (ClinVar)

Gene: CDKL5

Condition: CDKL5 disorder

Inheritance Mode: X-linked inheritance

Link to MONDO

UUID: 3f21778e-081f-4a6b-887b-b8284481e825

Approved on: 2023-04-14

Published on: 2023-06-16

HGVS expressions

NM_001323289.2:c.2151A>G

NM_001323289.2(CDKL5):c.2151A>G (p.Arg717=)

NC_000023.11:g.18609569A>G

CM000685.2:g.18609569A>G

NC_000023.10:g.18627689A>G

CM000685.1:g.18627689A>G

NC_000023.9:g.18537610A>G

NG_008475.1:g.188965A>G

ENST00000623535.2:c.2151A>G

ENST00000635828.1:c.2151A>G

ENST00000674046.1:c.2151A>G

ENST00000379989.6:c.2151A>G

ENST00000379996.7:c.2151A>G

ENST00000463994.4:c.2151A>G

ENST00000623535.1:n.2151A>G

NM_001037343.1:c.2151A>G

NM_003159.2:c.2151A>G

NM_001323289.1:c.2151A>G

NM_001037343.2:c.2151A>G

NM_003159.3:c.2151A>G

Likely Pathogenic

PM2_Supporting PS2 PS4_Supporting

PM6

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.Arg717= variant in CDKL5 occurs in the de novo state (biological parentage confirmed) in an individual (Invitae internal database )(PS2). The p.Arg717= variant in CDKL5 occurs in the de novo state (biological parentage unconfirmed) in an individual (GeneDx internal database). The p.Arg717= variant has been observed in at least 2 individuals with neurological disease (Invitae and GeneDx internal database). The p.Arg717= variant in CDKL5 is absent from gnomAD (PM2_supporting). In summary, the p.Arg717= variant in CDKL5 is classified as likely pathogenic for a CDKL5-related disorder based on the ACMG/AMP criteria (PS2, PS4_supporting, PM2_supporting).

PM2_Supporting

The p.Arg717= variant in CDKL5 is absent from gnomAD

PS2

The p.Arg717= variant in CDKL5 occurs in the de novo state (biological parentage confirmed) in this individual (Invitae internal database )(PS2).

PS4_Supporting

The p.Arg717= variant has been observed in at least 2 individuals with neurological disease (Invitae and GeneDx internal database)

PM6

The p.Arg717= variant in CDKL5 occurs in the de novo state (biological parentage unconfirmed) in this individual (GeneDx internal database)(PM6).

Curation History

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. If you have questions about the information contained on this website, please see a health care professional.