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.244T>C (p.Ser82Pro)

CA415177504

560190 (ClinVar)

Gene: MECP2 (HGNC:4204)

Condition: Rett syndrome (MONDO:0010726)

Inheritance Mode: X-linked inheritance

UUID: c40905b6-de17-46c9-9639-e7f133ca5bda

Approved on: 2026-01-28

Published on: 2026-03-31

HGVS expressions

NM_001110792.2(MECP2):c.244T>C (p.Ser82Pro)

NM_001110792.2:c.244T>C

NC_000023.11:g.154032376A>G

CM000685.2:g.154032376A>G

NC_000023.10:g.153297827A>G

CM000685.1:g.153297827A>G

NC_000023.9:g.152951021A>G

NG_007107.2:g.109752T>C

NG_007107.3:g.109728T>C

ENST00000303391.11:c.208T>C

ENST00000453960.7:c.244T>C

ENST00000303391.10:c.208T>C

ENST00000369957.5:c.*262T>C

ENST00000407218.5:c.244T>C

ENST00000453960.6:c.244T>C

ENST00000486506.5:n.2556T>C

ENST00000496908.5:n.339T>C

ENST00000611468.1:c.196T>C

ENST00000619732.4:c.208T>C

ENST00000622433.4:c.196T>C

ENST00000628176.2:c.208T>C

ENST00000631210.1:n.487T>C

NM_001110792.1:c.244T>C

NM_001316337.1:c.-72T>C

NM_004992.3:c.208T>C

NM_001316337.2:c.-72T>C

NM_001369391.2:c.-72T>C

NM_001369392.2:c.-72T>C

NM_001369393.2:c.-72T>C

NM_001369394.1:c.-72T>C

NM_001369394.2:c.-72T>C

NM_001386137.1:c.-353T>C

NM_001386138.1:c.-353T>C

NM_001386139.1:c.-353T>C

NM_004992.4:c.208T>C

Uncertain Significance

BS2 PM2_Supporting

PM1 PS4 PP3

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 5.0.0

Criteria Specification Approval History

Criteria Specifications for this VCEP

Evidence submitted by expert panel

Rett and Angelman-like Disorders VCEP

The p.Ser70Pro variant in MECP2 (NM_004992.4) is observed in at least 2 unaffected individuals (Labcorp (formerly Invitae)- internal database, GeneDx-internal database) and has not been previously published as associated with disease (BS2). The p.Ser70Pro variant in MECP2 is absent from gnomAD v4.1 (PM2_Supporting). Computational prediction analysis tools are inconclusive for this variant. In summary, the p.Ser70Pro variant in MECP2 is classified as a variant of uncertain significance based on the ACMG/AMP criteria (BS2, PM2_Supporting). (MECP2 Specifications v.5.0; curation approved on 01/28/2026).

BS2

The p.Ser70Pro variant is observed in at least 2 unaffected individuals (Labcorp (formerly Invitae) - internal database) (GeneDx - internal database).

PM2_Supporting

The p.Ser70Pro variant in MECP2 is absent from gnomAD v4.1 (PM2_Supporting).

PM1

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

PS4

Identified in one proband from GeneDx with developmental delay and behavioral issues, inherited from a parent without a MECP2-related phenotype.

PP3

REVEL = 0.536. Computational prediction analysis tools are inconclusive for this variant.

Curation History

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