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]

x This classification has been retracted/unpublished!

Link to SEPIO compliant JSON-LD document

Variant: NM_003159.2(CDKL5):c.146-1G>A

CA171613

158179 (ClinVar)

Gene: CDKL5

Condition: CDKL5 disorder

Inheritance Mode: X-linked inheritance (dominant (HP:0001423))

Link to MONDO

UUID: 0305323e-a1e9-44ca-a970-405bbb93be98

HGVS expressions

NM_003159.2:c.146-1G>A

NM_003159.2(CDKL5):c.146-1G>A

NC_000023.11:g.18575353G>A

CM000685.2:g.18575353G>A

NC_000023.10:g.18593473G>A

CM000685.1:g.18593473G>A

NC_000023.9:g.18503394G>A

NG_008475.1:g.154749G>A

ENST00000623535.2:c.146-1G>A

ENST00000635828.1:c.146-1G>A

ENST00000637881.1:c.146-1G>A

ENST00000674046.1:c.146-1G>A

ENST00000379989.6:c.146-1G>A

ENST00000379996.7:c.146-1G>A

ENST00000463994.4:c.146-1G>A

ENST00000623364.3:c.146-1G>A

ENST00000623535.1:c.146-1G>A

ENST00000624700.3:c.146-1G>A

NM_001037343.1:c.146-1G>A

NM_001323289.1:c.146-1G>A

NM_001323289.2:c.146-1G>A

NM_001037343.2:c.146-1G>A

NM_003159.3:c.146-1G>A

NM_001323289.2(CDKL5):c.146-1G>A

Likely Pathogenic

PVS1 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 c.146-1G>A variant in CDKL5 is predicted to affect a canonical splice site and lead to a truncated or absent protein in a CDKL5 where loss-of-function is an established mechanism. There is significant evidence that loss of this region of the CDKL5 is pathogenic (PVS1). The c.146-1G>A variant in CDKL5 is absent from gnomAD (PM2_Supporting). In summary, the c.146-1G>A variant in CDKL5 is classified as likely pathogenic based on the ACMG/AMP criteria (PVS1, PM2_supporting).

PVS1

PM2_Supporting

The c.146-1G>A variant in CDKL5 is absent from gnomAD.

Approved on: 2021-04-02

Published on: 2024-02-29

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