Evidence Repository
The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]
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Variant: NM_001323289.2(CDKL5):c.2821del (p.Tyr941fs)

CA915950778

643438 (ClinVar)

Gene: CDKL5
Condition: CDKL5 disorder
Inheritance Mode: X-linked inheritance
Link to MONDO
UUID: e92ed968-5d12-483b-8a62-3cbfac2795bb
Approved on: 2022-08-25
Published on: 2022-09-06

HGVS expressions

NM_001323289.2:c.2821del
NM_001323289.2(CDKL5):c.2821del (p.Tyr941fs)
NC_000023.11:g.18628695del
CM000685.2:g.18628695del
NC_000023.10:g.18646815del
CM000685.1:g.18646815del
NC_000023.9:g.18556736del
NG_008475.1:g.208091del
ENST00000623535.2:c.2821del
ENST00000674046.1:c.2944del
ENST00000379989.6:c.2713+108del
ENST00000379996.7:c.2713+108del
ENST00000623535.1:n.2821del
NM_001037343.1:c.2713+108del
NM_003159.2:c.2713+108del
NM_001323289.1:c.2821del
NM_001037343.2:c.2713+108del
NM_003159.3:c.2713+108del

Pathogenic

Met criteria codes 3
PVS1 PS2 PM2_Supporting

Evidence Links 0

Expert Panel

Criteria Specification Information

Criteria Specifications for this VCEP
Evidence submitted by expert panel
Rett and Angelman-like Disorders VCEP
The p.Tyr941fs variant in CDKL5 is predicted to cause a premature stop codon that leads to a truncated or absent protein in a gene where loss-of-function is an established mechanism. There is significant evidence that loss of this region of the gene is pathogenic (PVS1). The p.Tyr941fs variant in CDKL5 has been reported as a de novo occurrence (biological parentage confirmed) in an individual with CDKL5 disorder (internal database) (PS2). The p.Tyr941fs variant in CDKL5 is absent from gnomAD (PM2_Supporting). In summary, the p.Tyr941fs variant in CDKL5 is classified as pathogenic for CDKL5 disorder based on the ACMG/AMP criteria (PVS1, PS2, PM2_Supporting).
Met criteria codes
PVS1
The p.Tyr941fs variant in CDKL5 is predicted to cause a premature stop codon that leads to a truncated or absent protein in a gene where loss-of-function is an established mechanism. There is significant evidence that loss of this region of the gene is pathogenic
PS2
The p.Tyr941fs variant in CDKL5 has been reported as a de novo occurrence (biological parentage confirmed) in an individual with CDKL5 disorder (internal database)
PM2_Supporting
The p.Tyr941fs variant in CDKL5 is absent from gnomAD
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