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.2107C>G (p.Leu703Val)

CA10360460

377648 (ClinVar)

Gene: CDKL5 (HGNC:6792)

Condition: CDKL5 disorder (MONDO:0100039)

Inheritance Mode: X-linked inheritance

UUID: ea48b560-cc1c-4ab2-bba8-c4ee39255687

Approved on: 2023-08-28

Published on: 2023-09-14

HGVS expressions

NM_001323289.2:c.2107C>G

NM_001323289.2(CDKL5):c.2107C>G (p.Leu703Val)

NC_000023.11:g.18609525C>G

CM000685.2:g.18609525C>G

NC_000023.10:g.18627645C>G

CM000685.1:g.18627645C>G

NC_000023.9:g.18537566C>G

NG_008475.1:g.188921C>G

ENST00000623535.2:c.2107C>G

ENST00000635828.1:c.2107C>G

ENST00000674046.1:c.2107C>G

ENST00000379989.6:c.2107C>G

ENST00000379996.7:c.2107C>G

ENST00000463994.4:c.2107C>G

ENST00000623535.1:c.2107C>G

NM_001037343.1:c.2107C>G

NM_003159.2:c.2107C>G

NM_001323289.1:c.2107C>G

NM_001037343.2:c.2107C>G

NM_003159.3:c.2107C>G

Likely Benign

BP5 BS2

BP4 PM2 BA1 BS1

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.Leu703Val variant in CDKL5 is present in 1 female individual in gnomAD (0.0005%) (not sufficient to meet BS1 criteria). The p.Leu703Val variant is observed in at least 2 unaffected individuals (internal database) (BS2). The p.Leu703Val variant is found in a patient with an alternate molecular basis of disease (internal database) (BP5). In summary, the p.Leu703Val variant in CDKL5 is classified as likely benign based on the ACMG/AMP criteria (BS2, BP5).

BP5

The p.Leu703Val variant is found in a patient with an alternate molecular basis of disease (internal database) (BP5).

BS2

The p.Leu703Val variant is observed in at least 2 unaffected individuals (internal database) (BS2).

BP4

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

PM2

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

BA1

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

BS1

The p.Leu703Val variant in CDKL5 is present in 1 female individual in gnomAD (0.0005%) (not sufficient to meet BS1 criteria).

Curation History

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