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.211A>G (p.Asn71Asp)

CA199365

156591 (ClinVar)

Gene: CDKL5 (HGNC:6792)

Condition: CDKL5 disorder (MONDO:0100039)

Inheritance Mode: X-linked inheritance

UUID: 9c047601-c1b5-474b-b4ff-ce324421c5d7

Approved on: 2026-08-25

Published on: 2026-09-24

HGVS expressions

NM_001323289.2:c.211A>G

NM_001323289.2(CDKL5):c.211A>G (p.Asn71Asp)

NC_000023.11:g.18575419A>G

CM000685.2:g.18575419A>G

NC_000023.10:g.18593539A>G

CM000685.1:g.18593539A>G

NC_000023.9:g.18503460A>G

NG_008475.1:g.154815A>G

ENST00000623535.2:c.211A>G

ENST00000635828.1:c.211A>G

ENST00000637881.1:c.211A>G

ENST00000674046.1:c.211A>G

ENST00000379989.6:c.211A>G

ENST00000379996.7:c.211A>G

ENST00000463994.4:c.211A>G

ENST00000623535.1:c.211A>G

NM_001037343.1:c.211A>G

NM_003159.2:c.211A>G

NM_001323289.1:c.211A>G

NM_001037343.2:c.211A>G

NM_003159.3:c.211A>G

Likely Pathogenic

PM2_Supporting PS4 PP4 PM6

BP4 PP3 PM1 PM5

Evidence Links 0

Expert Panel

Rett and Angelman-like Disorders VCEP

Criteria Specification Information

Criteria Specification: ClinGen Rett and Angelman-like Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for CDKL5 Version 6.0

Criteria Specification Approval History

Criteria Specifications for this VCEP

Evidence submitted by expert panel

Rett and Angelman-like Disorders VCEP

The p.Asn71Asp variant in CDKL5 has been reported as a de novo occurrence (biological parentage unconfirmed) in an individual with CDKL5 disorder (PMID: 21482751) (PM6, PP4). It has been observed in at least 5 additional individuals with CDKL5 disorder (PMID: 37583270, 19362436, 22872100, internal database - GeneDx) (PS4). The p.Asn71Asp variant is also absent in gnomAD v4.1.1 (PM2_Supporting). In summary, the p.Asn71Asp variant in CDKL5 is classified as Likely Pathogenic for CDKL5 disorder based on the ACMG/AMP criteria (PM6, PS4, PM2_Supporting, PP4). CDKL5 Specifications v6.0; curation approved on 25-Aug-2026.

PM2_Supporting

The p.Asn71Asp variant in CDKL5 is absent from gnomAD v4.1 (PM2_Supporting).

PS4

The p.Asn71Asp variant has been observed in at least 5 individuals with CDKL5 disorder (PMID: 37583270, 19362436, 22872100, 21482751, ClinVar) (PS4).

PP4

The p.Asn71Asp variant in CDKL5 has been reported in an individual with a clinical phenotype suggestive of CDKL5 disorder (PMID: 21482751) (PP4).

PM6

The p.Asn71Asp variant in CDKL5 has been reported as a de novo occurrence (biological parentage unconfirmed) in an individual with CDKL5 disorder (PMID: 21482751) (PM6).

BP4

Computational prediction analysis tools are inconclusive for this variant.

PP3

Computational prediction analysis tools are inconclusive for this variant.

PM1

Not located in ATP binding region: aa 19-43; TEY phosphorylation site: aa 169-171

PM5

Alternative changes p.Asn71Lys and p.Asn71Ser do not currently meet the criteria to be classified as LP/P.

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.