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.194G>A (p.Arg65Gln)

Curation Version - 1.0
Curation History
JSON LD for Version 1.0

CA170462

143789 (ClinVar)

Gene: CDKL5

Condition: CDKL5 disorder

Inheritance Mode: X-linked inheritance

Link to MONDO

UUID: cd3df688-fed2-47ce-8454-6b160dfecaa2

Approved on: 2023-08-23

Published on: 2023-09-14

HGVS expressions

NM_001323289.2:c.194G>A

NM_001323289.2(CDKL5):c.194G>A (p.Arg65Gln)

NC_000023.11:g.18575402G>A

CM000685.2:g.18575402G>A

NC_000023.10:g.18593522G>A

CM000685.1:g.18593522G>A

NC_000023.9:g.18503443G>A

NG_008475.1:g.154798G>A

ENST00000623535.2:c.194G>A

ENST00000635828.1:c.194G>A

ENST00000637881.1:c.194G>A

ENST00000674046.1:c.194G>A

ENST00000379989.6:c.194G>A

ENST00000379996.7:c.194G>A

ENST00000463994.4:c.194G>A

ENST00000623535.1:c.194G>A

ENST00000624700.3:c.194G>A

NM_001037343.1:c.194G>A

NM_003159.2:c.194G>A

NM_001323289.1:c.194G>A

NM_001037343.2:c.194G>A

NM_003159.3:c.194G>A

Likely Benign

BS2 BP5

PM2 BS1 BP4

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.Arg65Gln variant in CDKL5 is present in 2 female and 1 male individuals in gnomAD (0.002%) (not sufficient to meet BS1 criteria). The p.Arg65Gln variant is observed in at least 2 unaffected individuals (internal database) (BS2). The p.Arg65Gln variant is found in 2 patients with an alternate molecular basis of disease (internal database) (BP5). In summary, the p.Arg65Gln variant in CDKL5 is classified as likely benign based on the ACMG/AMP criteria (BS2, BP5).

BS2

The p.Arg65Gln variant in CDKL5 is present in 2 female and 1 male individuals in gnomAD (0.002) (not sufficient to meet BS1 criteria). The p.Arg65Gln variant is observed in at least 2 unaffected individuals (internal database) (BS2).

BP5

The p.Arg65Gln variant is found in 2 patients with an alternate molecular basis of disease (internal database) (BP5).

PM2

No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline

BS1

The p.Arg65Gln variant in CDKL5 is present in 2 female and 1 male individuals in gnomAD (0.002) (not sufficient to meet BS1 criteria).

BP4

No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline

Curation History

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