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]
  • No CSPEC related information was provided by the message!
  • See Evidence submitted by expert panel for details.

Variant: NM_001110792.2(MECP2):c.686C>T (p.Pro229Leu)

CA10581615

236302 (ClinVar)

Gene: MECP2
Condition: Rett syndrome
Inheritance Mode: X-linked inheritance
Link to MONDO
UUID: f2c5bce1-28a5-423f-911e-2ae5970fcbb4
Approved on: 2022-02-18
Published on: 2022-06-30

HGVS expressions

NM_001110792.2:c.686C>T
NM_001110792.2(MECP2):c.686C>T (p.Pro229Leu)
NC_000023.11:g.154031178G>A
CM000685.2:g.154031178G>A
NC_000023.10:g.153296629G>A
CM000685.1:g.153296629G>A
NC_000023.9:g.152949823G>A
NG_007107.2:g.110950C>T
NG_007107.3:g.110926C>T
ENST00000303391.11:c.650C>T
ENST00000453960.7:c.686C>T
ENST00000637917.1:n.65+218C>T
ENST00000303391.10:c.650C>T
ENST00000407218.5:c.*22C>T
ENST00000453960.6:c.686C>T
ENST00000619732.4:c.650C>T
ENST00000622433.4:c.638C>T
ENST00000628176.2:c.*22C>T
NM_001110792.1:c.686C>T
NM_001316337.1:c.371C>T
NM_004992.3:c.650C>T
NM_001316337.2:c.371C>T
NM_001369391.2:c.371C>T
NM_001369392.2:c.371C>T
NM_001369393.2:c.371C>T
NM_001369394.1:c.371C>T
NM_001369394.2:c.371C>T
NM_001386137.1:c.-20C>T
NM_001386138.1:c.-20C>T
NM_001386139.1:c.-20C>T
NM_004992.4:c.650C>T
More

Likely Pathogenic

Met criteria codes 3
PM2_Supporting PS2 PS4_Moderate

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.Pro217Leu variant in MECP2 (NM_004992.3) has been reported as a de novo occurrence (biological parentage both confirmed and unconfirmed) in 2 individuals with neurodevelopmental disorders (PMID 27824329, LabCorp) (PS2). The p.Pro217Leu variant has been observed in individuals with neurodevelopmental disorders (PMID 27824329, LabCorp, Invitae internal database) (PS4_moderate). The p.Pro217Leu in MECP2 is absent from gnomAD (PM2_supporting). In summary, the p.Pro217Leu variant in MECP2 is classified as likely pathogenic for Rett syndrome based on the ACMG/AMP criteria (PS2, PS4_moderate, PM2_supporting).
Met criteria codes
PM2_Supporting
The p.Pro217Leu in MECP2 is absent from gnomAD.
PS2
The p.Pro217Leu variant in MECP2 (NM_004992.3) has been reported as a de novo occurrence (biological parentage both confirmed and unconfirmed) in 2 individuals with neurodevelopmental disorders (PMID 27824329, LabCorp)
PS4_Moderate
The p.Pro217Leu variant has been observed in individuals with neurodevelopmental disorders (PMID 27824329, LabCorp, Invitae internal database) (PS4_moderate).
Curation History
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.