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.535C>T (p.Arg179Trp)

CA170308

143603 (ClinVar)

Gene: MECP2

Condition: Rett syndrome

Inheritance Mode: X-linked inheritance

Link to MONDO

UUID: f50c6e2c-0485-4079-a589-cb0a7c521757

HGVS expressions

NM_001110792.2:c.535C>T

NM_001110792.2(MECP2):c.535C>T (p.Arg179Trp)

NC_000023.11:g.154031329G>A

CM000685.2:g.154031329G>A

NC_000023.10:g.153296780G>A

CM000685.1:g.153296780G>A

NC_000023.9:g.152949974G>A

NG_007107.2:g.110799C>T

NG_007107.3:g.110775C>T

ENST00000303391.11:c.499C>T

ENST00000453960.7:c.535C>T

ENST00000637917.1:n.65+67C>T

ENST00000303391.10:c.499C>T

ENST00000407218.5:c.469-43C>T

ENST00000453960.6:c.535C>T

ENST00000486506.5:n.2847C>T

ENST00000611468.1:c.485C>T

ENST00000619732.4:c.499C>T

ENST00000622433.4:c.487C>T

ENST00000628176.2:c.433-43C>T

NM_001110792.1:c.535C>T

NM_001316337.1:c.220C>T

NM_004992.3:c.499C>T

NM_001316337.2:c.220C>T

NM_001369391.2:c.220C>T

NM_001369392.2:c.220C>T

NM_001369393.2:c.220C>T

NM_001369394.1:c.220C>T

NM_001369394.2:c.220C>T

NM_001386137.1:c.-128-43C>T

NM_001386138.1:c.-128-43C>T

NM_001386139.1:c.-128-43C>T

NM_004992.4:c.499C>T

Pathogenic

PS2_Very Strong PM2_Supporting PP1_Strong

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.Arg167Trp variant (NM_004992.3) in MECP2 has been reported as a de novo occurrence (biological parentage confirmed) in at least 2 individuals with MECP2-related disorders through testing completed at GeneDx (PS2_very strong). The variant has been reported to segregate in at least five informative meioses in published literature (Couvert et al., 2001) (PP1_strong). The p.Arg167Trp variant in MECP2 is absent from gnomAD (PM2_supporting). In summary, the p.Arg167Trp variant in MECP2 is classified as pathogenic for Rett syndrome based on the ACMG/AMP criteria (PS2_very strong, PP1_strong, PM2_supporting).

PS2_Very Strong

The p.Arg179Trp variant in MECP2 has been reported as a de novo occurrence (biological parentage confirmed) in at least 2 individuals with MECP2-related disorders through testing completed at GeneDx

PM2_Supporting

The p.Arg179Trp variant in MECP2 is absent from gnomAD

PP1_Strong

The variant has been reported to segregate in at least five informative meioses in published literature (Couvert et al., 2001)

Approved on: 2021-12-13

Published on: 2023-02-24

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