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]
Link to SEPIO compliant JSON-LD document
  • No CSPEC related information was provided by the message!
  • See Evidence submitted by expert panel for details.

Variant: NM_001323289.2(CDKL5):c.38T>C (p.Phe13Ser)

CA412489564

929426 (ClinVar)

Gene: CDKL5
Condition: CDKL5 disorder
Inheritance Mode: X-linked inheritance
Link to MONDO
UUID: 00757f98-adba-4f7e-a510-520b9680a772

HGVS expressions

NM_001323289.2:c.38T>C
NM_001323289.2(CDKL5):c.38T>C (p.Phe13Ser)
NC_000023.11:g.18507134T>C
CM000685.2:g.18507134T>C
NC_000023.10:g.18525254T>C
CM000685.1:g.18525254T>C
NC_000023.9:g.18435175T>C
NG_008475.1:g.86530T>C
ENST00000623535.2:c.38T>C
ENST00000635828.1:c.38T>C
ENST00000637881.1:c.38T>C
ENST00000674046.1:c.38T>C
ENST00000379989.6:c.38T>C
ENST00000379996.7:c.38T>C
ENST00000463994.4:c.38T>C
ENST00000623364.3:c.38T>C
ENST00000623535.1:n.38T>C
ENST00000624700.3:c.38T>C
ENST00000624953.1:c.38T>C
NM_001037343.1:c.38T>C
NM_003159.2:c.38T>C
NM_001323289.1:c.38T>C
NM_001037343.2:c.38T>C
NM_003159.3:c.38T>C

Likely Pathogenic

Met criteria codes 3
PS2 PP4 PM2_Supporting
Not Met criteria codes 8
PS1 PP3 BA1 PM5 PM1 PM6 BS1 BP4

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.Phe13Ser variant in CDKL5 has been reported as a de novo occurrence (biological parentage confirmed) in an individual with CDKL5 disorder (internal database) and as a de novo occurrence (biological parentage unconfirmed) in an individual with CDKL5 disorder (PMID 31313283) (PS2). The p.Phe13Ser variant in CDKL5 is present in an individual with a clinical phenotype suggestive of CDKL5 disorder (internal database) (PP4). The p.Phe13Ser variant in CDKL5 is absent from gnomAD (PM2_Supporting). In summary, the p.Phe13Ser variant in CDKL5 is classified as likely pathogenic for CDKL5 disorder based on the ACMG/AMP criteria (PS2, PP4, PM2_Supporting).
Met criteria codes
PS2
The p.Phe13Ser variant in CDKL5 has been reported as a de novo occurrence (biological parentage confirmed) in an individual with CDKL5 disorder (internal database) and as a de novo occurrence (biological parentage unconfirmed) in an individual with CDKL5 disorder (PMID 31313283) (PS2).
PP4
The p.Phe13Ser variant in CDKL5 is present in an individual with a clinical phenotype suggestive of CDKL5 disorder (internal database)
PM2_Supporting
The p.Phe13Ser variant in CDKL5 is absent from gnomAD.
Not Met criteria codes
PS1
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PP3
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
PM5
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PM1
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PM6
The p.Phe13Ser variant in CDKL5 has been reported as a de novo occurrence (biological parentage unconfirmed) in an individual with CDKL5 disorder (PMID 31313283) - combined with PS2
BS1
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BP4
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
Approved on: 2022-09-01
Published on: 2022-09-06
The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. If you have questions about the information contained on this website, please see a health care professional.
¤ Powered by BCM's Genboree.