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]
  • See Evidence submitted by expert panel for details.

Variant: NM_003159.2(CDKL5):c.2896G>A (p.Val966Ile)

CA209185

210646 (ClinVar)

Gene: CDKL5
Condition: CDKL5 disorder
Inheritance Mode: X-linked inheritance
Link to MONDO
UUID: 6358edd6-1663-4d8a-9784-64f135a14164
Approved on: 2021-03-26
Published on: 2021-05-17

HGVS expressions

NM_003159.2:c.2896G>A
NM_003159.2(CDKL5):c.2896G>A (p.Val966Ile)
ENST00000379984.4:c.185-3176C>T
ENST00000673617.1:n.168G>A
ENST00000379984.3:c.185-3176C>T
ENST00000379989.6:c.2896G>A
ENST00000379996.7:c.2896G>A
ENST00000476595.1:n.30C>T
NM_000330.3:c.185-3176C>T
NM_001037343.1:c.2896G>A
NM_000330.4:c.185-3176C>T
NM_001037343.2:c.2896G>A
NM_003159.3:c.2896G>A
NC_000023.11:g.18650508G>A
CM000685.2:g.18650508G>A
NC_000023.10:g.18668628G>A
CM000685.1:g.18668628G>A
NC_000023.9:g.18578549G>A
NG_008475.1:g.229904G>A
NG_008659.3:g.31941C>T
More

Benign

Met criteria codes 4
BP4 BP5 BA1 BS2_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 allele frequency of the p.Val966Ile variant in CDKL5 is 0.03% in South Asian sub population in gnomAD, which is high enough to be classified as benign based on thresholds defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like conditions (BA1). The p.Val966Ile variant is observed in at least 1 unaffected individual (internal database) (BS2_supporting). Computational analysis prediction tools suggest that the p.Val966Ile variant does not have a deleterious impact; however this information does not predict clinical significance on its own (BP4). The p.Val966Ile variant is found in a patient with an alternate molecular basis of disease (internal database) (BP5). In summary, the p.Val966Ile variant in CDKL5 is classified as benign based on the ACMG/AMP criteria applied (BA1, BS2_supporting, BP4, BP5).
Met criteria codes
BP4
Computational analysis prediction tools suggest that the p.Val966Ile variant does not have a deleterious impact; however this information does not predict clinical significance on its own
BP5
The p.Val966Ile variant is found in a patient with an alternate molecular basis of disease (internal database)
BA1
The allele frequency of the p.Val966Ile variant in CDKL5 is 0.03% in South Asian sub population in gnomAD, which is high enough to be classified as benign based on thresholds defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like conditions.
BS2_Supporting
The p.Val966Ile variant is observed in at least 1 unaffected individual (internal database)
Curation History
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