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.1A>T (p.Met1Leu)

CA274666

156661 (ClinVar)

Gene: MECP2

Condition: Rett syndrome

Inheritance Mode: X-linked inheritance

Link to MONDO

UUID: 8848c6dc-c0a0-47d8-9b94-3631b6b639b6

HGVS expressions

NM_001110792.2:c.1A>T

NM_001110792.2(MECP2):c.1A>T (p.Met1Leu)

NC_000023.11:g.154097665T>A

CM000685.2:g.154097665T>A

NC_000023.10:g.153363122T>A

CM000685.1:g.153363122T>A

NC_000023.9:g.153016316T>A

NG_007107.2:g.44457A>T

NG_007107.3:g.44439A>T

ENST00000303391.11:c.-160A>T

ENST00000453960.7:c.1A>T

ENST00000303391.10:c.-160A>T

ENST00000407218.5:c.1A>T

ENST00000453960.6:c.1A>T

ENST00000619732.4:c.-160A>T

ENST00000627864.1:n.16A>T

ENST00000628176.2:c.-160A>T

ENST00000631210.1:n.305+7116A>T

NM_001110792.1:c.1A>T

NM_001316337.1:c.-607A>T

NM_004992.3:c.-160A>T

NM_001316337.2:c.-607A>T

NM_001369391.2:c.-902A>T

NM_001369392.2:c.-551A>T

NM_001369393.2:c.-427A>T

NM_001386137.1:c.-832A>T

NM_001386138.1:c.-720A>T

NM_001386139.1:c.-596A>T

NM_004992.4:c.-160A>T

Likely Pathogenic

PM6_Strong PP4 PM2_Supporting

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.Met1Leu variant (NM_001110792.2) in MECP2 has been reported in at least 2 de novo occurrences (biological parentage unconfirmed) in individuals with Rett syndrome (PMID 16225173, GeneDx Internal Database)(PM6_strong, PP4). The p.Met1Leu variant in MECP2 is absent from gnomAD (PM2_supporting). In summary, the p.Met1Leu variant in MECP2 is classified as a likely pathogenic variant based on the ACMG/AMP criteria (PM6_strong, PP4, PM2_supporting).

PM6_Strong

The pMet1Leu variant in MECP2 has been reported in at least 2 de novo occurrences (biological parentage unconfirmed) in individuals with Rett syndrome (PMID 16225173, GeneDx Internal Database)

PP4

The p.Met1Leu variant in MECP2 has been reported in an individual with a clinical phenotype suggestive of Rett syndrome (PMID 16225173)

PM2_Supporting

The p.Met1Leu variant in MECP2 is absent from gnomAD

Approved on: 2021-12-22

Published on: 2021-12-27

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