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.1448G>C (p.Arg483Thr)

CA16609147

378124 (ClinVar)

Gene: MECP2

Condition: Rett syndrome

Inheritance Mode: X-linked inheritance

Link to MONDO

UUID: ebe2bb61-c4f4-4d68-8155-155e7a6897e2

Approved on: 2024-04-18

Published on: 2024-07-01

HGVS expressions

NM_001110792.2:c.1448G>C

NM_001110792.2(MECP2):c.1448G>C (p.Arg483Thr)

NC_000023.11:g.154030416C>G

CM000685.2:g.154030416C>G

NC_000023.10:g.153295867C>G

CM000685.1:g.153295867C>G

NC_000023.9:g.152949061C>G

NG_007107.2:g.111712G>C

NG_007107.3:g.111688G>C

ENST00000303391.11:c.1412G>C

ENST00000453960.7:c.1448G>C

ENST00000303391.10:c.1412G>C

ENST00000453960.6:c.1448G>C

ENST00000619732.4:c.1412G>C

ENST00000628176.2:c.*784G>C

NM_001110792.1:c.1448G>C

NM_001316337.1:c.1133G>C

NM_004992.3:c.1412G>C

NM_001316337.2:c.1133G>C

NM_001369391.2:c.1133G>C

NM_001369392.2:c.1133G>C

NM_001369393.2:c.1133G>C

NM_001369394.1:c.1133G>C

NM_001369394.2:c.1133G>C

NM_001386137.1:c.743G>C

NM_001386138.1:c.743G>C

NM_001386139.1:c.743G>C

NM_004992.4:c.1412G>C

Uncertain Significance

PM2_Supporting BS2_Supporting

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 3.0.0

Criteria Specification Approval History

Criteria Specifications for this VCEP

Evidence submitted by expert panel

Rett and Angelman-like Disorders VCEP

The p.Arg471Thr variant in MECP2 (NM_004992.3) is absent from gnomAD v2.1.1 (PM2_supporting). The p.Arg471Thr variant is observed in at least 1 unaffected individuals (GeneDx internal database) (BS2_supporting). In summary, the p.Arg471Thr variant in MECP2 is classified as a variant of uncertain significance based on the ACMG/AMP criteria (PM2_supporting, BS2_supporting).

PM2_Supporting

The p.Arg471Thr variant in MECP2 is absent from gnomAD v2.1.1.

BS2_Supporting

The p.Arg471Thr variant is observed in at least 1 unaffected individual (GeneDx internal database).

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