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.1273T>C (p.Cys425Arg)

Curation Version - 1.0
Curation History
JSON LD for Version 1.0

CA208666

211455 (ClinVar)

Gene: MECP2

Condition: Rett syndrome

Inheritance Mode: X-linked inheritance

Link to MONDO

UUID: f44c02b4-1364-44a1-9a07-2aec8fccd905

Approved on: 2023-05-05

Published on: 2023-06-21

HGVS expressions

NM_001110792.2:c.1273T>C

NM_001110792.2(MECP2):c.1273T>C (p.Cys425Arg)

NC_000023.11:g.154030591A>G

CM000685.2:g.154030591A>G

NC_000023.10:g.153296042A>G

CM000685.1:g.153296042A>G

NC_000023.9:g.152949236A>G

NG_007107.2:g.111537T>C

NG_007107.3:g.111513T>C

ENST00000303391.11:c.1237T>C

ENST00000453960.7:c.1273T>C

ENST00000303391.10:c.1237T>C

ENST00000453960.6:c.1273T>C

ENST00000619732.4:c.1237T>C

ENST00000628176.2:c.*609T>C

NM_001110792.1:c.1273T>C

NM_001316337.1:c.958T>C

NM_004992.3:c.1237T>C

NM_001316337.2:c.958T>C

NM_001369391.2:c.958T>C

NM_001369392.2:c.958T>C

NM_001369393.2:c.958T>C

NM_001369394.1:c.958T>C

NM_001369394.2:c.958T>C

NM_001386137.1:c.568T>C

NM_001386138.1:c.568T>C

NM_001386139.1:c.568T>C

NM_004992.4:c.1237T>C

Uncertain Significance

PM2_Supporting BP5

PP3 BS4 BP4

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.Cys413Arg variant in MECP2 (NM_004992.3) is absent from gnomAD (PM2_Supporting). The p.Cys413Arg variant in MECP2 (NM_004992.3) is found in a patient with an alternate molecular basis of disease (internal database) (BP5). In summary the p.Cys413Arg variant in MECP2 (NM_004992.3) is classified as a variant of unknown significance based on the ACMG/AMP criteria (PM2_Supporting, BP5).

PM2_Supporting

The p.Cys413Arg variant in MECP2 (NM_004992.3) is absent from gnomAD (PM2_Supporting).

BP5

The p.Cys413Arg variant in MECP2 (NM_004992.3) is found in a patient with an alternate molecular basis of disease (internal database) (BP5).

PP3

No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline

BS4

Seen in a family with lack of segregation. Variant was originally identified in affected proband with neurodevelopmental phenotype, but then absent in similarly affected brother and present in unaffected brother.

BP4

No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline

Curation History

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