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]

Link to SEPIO compliant JSON-LD document

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

Likely Pathogenic

PS4_Moderate PS2 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 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).

PS4_Moderate

The p.Pro217Leu variant has been observed in individuals with neurodevelopmental disorders (PMID 27824329, LabCorp, Invitae internal database) (PS4_moderate).

PS2

PM2_Supporting

The p.Pro217Leu in MECP2 is absent from gnomAD.

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