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_003159.2(CDKL5):c.1296_1298del (p.Lys432_Tyr433delinsAsn)

Curation Version - 1.0
Curation History
JSON LD for Version 1.0

CA645373290

434662 (ClinVar)

Gene: CDKL5

Condition: CDKL5 disorder

Inheritance Mode: X-linked inheritance

Link to MONDO

UUID: 99372a9a-2138-4096-9af1-33d081eda9ba

Approved on: 2021-03-26

Published on: 2021-05-17

HGVS expressions

NM_003159.2:c.1296_1298del

NM_003159.2(CDKL5):c.1296_1298del (p.Lys432_Tyr433delinsAsn)

NC_000023.11:g.18604220_18604222del

CM000685.2:g.18604220_18604222del

NC_000023.10:g.18622340_18622342del

CM000685.1:g.18622340_18622342del

NC_000023.9:g.18532261_18532263del

NG_008475.1:g.183616_183618del

ENST00000623535.2:c.1296_1298del

ENST00000635828.1:c.1296_1298del

ENST00000637881.1:c.1296_1298del

ENST00000674046.1:c.1296_1298del

ENST00000379989.6:c.1296_1298del

ENST00000379996.7:c.1296_1298del

ENST00000463994.4:c.1296_1298del

ENST00000623535.1:n.1296_1298del

NM_001037343.1:c.1296_1298del

NM_001323289.1:c.1296_1298del

NM_001323289.2:c.1296_1298del

NM_001037343.2:c.1296_1298del

NM_003159.3:c.1296_1298del

Uncertain Significance

PM4_Supporting PM2_Supporting

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.Lys432_Tyr433delinsAsn variant in CDKL5 is absent from gnomAD (PM2_supporting). The p.Lys432_Tyr433delinsAsn variant causes a change in the length of 1 amino acid in the protein due to an in-frame deletion or insertion in a non-repeat region of CDKL5 (PM4_supporting). In summary, p.Lys432_Tyr433delinsAsn variant in CDKL5 is classified as a variant of uncertain significance based on the ACMG/AMP criteria (PM2_supporting, PM4_supporting).

PM4_Supporting

The p.Lys432_Tyr433delinsAsn variant causes a change in the length of the protein due to an in-frame deletion or insertion in a non-repeat region of CDKL5

PM2_Supporting

The p.Lys432_Tyr433delinsAsn variant in CDKL5 is absent from gnomAD

Curation History

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