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]

Variant: NM_001110792.2(MECP2):c.554C>G (p.Pro185Arg)

Curation Version - 1.0
Curation History
JSON LD for Version 1.0

CA170316

143609 (ClinVar)

Gene: MECP2

Condition: Rett syndrome

Inheritance Mode: X-linked inheritance

Link to MONDO

UUID: 0eb2f9c0-b8e7-43b8-b168-c9f3156d805d

Approved on: 2025-05-07

Published on: 2025-06-30

HGVS expressions

NM_001110792.2:c.554C>G

NM_001110792.2(MECP2):c.554C>G (p.Pro185Arg)

NC_000023.11:g.154031310G>C

CM000685.2:g.154031310G>C

NC_000023.10:g.153296761G>C

CM000685.1:g.153296761G>C

NC_000023.9:g.152949955G>C

NG_007107.2:g.110818C>G

NG_007107.3:g.110794C>G

ENST00000303391.11:c.518C>G

ENST00000453960.7:c.554C>G

ENST00000637917.1:c.65+86C>G

ENST00000303391.10:c.518C>G

ENST00000407218.5:c.469-24C>G

ENST00000453960.6:c.554C>G

ENST00000486506.5:n.2866C>G

ENST00000611468.1:c.504C>G

ENST00000619732.4:c.518C>G

ENST00000622433.4:c.506C>G

ENST00000628176.2:c.433-24C>G

NM_001110792.1:c.554C>G

NM_001316337.1:c.239C>G

NM_004992.3:c.518C>G

NM_001316337.2:c.239C>G

NM_001369391.2:c.239C>G

NM_001369392.2:c.239C>G

NM_001369393.2:c.239C>G

NM_001369394.1:c.239C>G

NM_001369394.2:c.239C>G

NM_001386137.1:c.-128-24C>G

NM_001386138.1:c.-128-24C>G

NM_001386139.1:c.-128-24C>G

NM_004992.4:c.518C>G

Likely Benign

BS2 BP5 PP3

BS1

Evidence Links 0

Expert Panel

Rett and Angelman-like Disorders VCEP

Criteria Specification Information

Criteria Specification: ClinGen Rett and Angelman-like Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for MECP2 Version 4.1.0

Criteria Specification Approval History

Criteria Specifications for this VCEP

Evidence submitted by expert panel

Rett and Angelman-like Disorders VCEP

The highest population minor allele frequency of the p.Pro173Arg variant in MECP2 (NM_004992.4) in gnomAD v4.1 is 0.00005278 in the South Asian population (not sufficient to meet BS1 criteria). The p.Pro173Arg variant is observed in at least 2 unaffected individuals (GeneDx internal database) (BS2). The p.Pro173Arg variant is found in a patient with an alternate molecular basis of disease (GeneDx internal database) (BP5). Computational prediction analysis tools suggests a deleterious impact; however, this information does not predict clinical significance on its own (PP3). In summary, the p.Pro173Arg variant in MECP2 is classified as likely benign based on the ACMG/AMP criteria (BS2, BP5). (MECP2 Specifications v.4.1; curation approved on [5/7/2025])

BS2

The p.Pro173Arg variant in MECP2 (NM_004992.4) is observed in at least 2 unaffected individuals (GeneDx internal database)

BP5

The p.Pro173Arg variant in MECP2 (NM_004992.4) is found in a patient with an alternate molecular basis of disease (GeneDx internal database)

PP3

Computational prediction analysis tools suggests a deleterious impact; however, this information does not predict clinical significance on its own (PP3).

BS1

The highest population minor allele frequency of the p.Pro173Arg variant in MECP2 (NM_004992.4) in gnomAD v4.1 is 0.00005278 in the South Asian population (not sufficient to meet BS1 criteria).

Curation History

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