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.1042C>G (p.Leu348Val)

CA294661

156628 (ClinVar)

Gene: MECP2

Condition: Rett syndrome

Inheritance Mode: X-linked inheritance

Link to MONDO

UUID: 17c62194-5666-4b79-956d-b912cd779fb1

Approved on: 2021-12-13

Published on: 2021-12-27

HGVS expressions

NM_001110792.2:c.1042C>G

NM_001110792.2(MECP2):c.1042C>G (p.Leu348Val)

NC_000023.11:g.154030822G>C

CM000685.2:g.154030822G>C

NC_000023.10:g.153296273G>C

CM000685.1:g.153296273G>C

NC_000023.9:g.152949467G>C

NG_007107.2:g.111306C>G

NG_007107.3:g.111282C>G

ENST00000303391.11:c.1006C>G

ENST00000453960.7:c.1042C>G

ENST00000303391.10:c.1006C>G

ENST00000407218.5:c.*378C>G

ENST00000453960.6:c.1042C>G

ENST00000619732.4:c.1006C>G

ENST00000628176.2:c.*378C>G

NM_001110792.1:c.1042C>G

NM_001316337.1:c.727C>G

NM_004992.3:c.1006C>G

NM_001316337.2:c.727C>G

NM_001369391.2:c.727C>G

NM_001369392.2:c.727C>G

NM_001369393.2:c.727C>G

NM_001369394.1:c.727C>G

NM_001369394.2:c.727C>G

NM_001386137.1:c.337C>G

NM_001386138.1:c.337C>G

NM_001386139.1:c.337C>G

NM_004992.4:c.1006C>G

Uncertain Significance

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.Leu336Val variant (NM_004992.3) in MECP2 is absent from gnomAD (PM2_supporting). The p.Leu336Val variant is not currently published and is not present in additional databases (internal and publicly available), therefore, no additional criteria are applicable at this time. In summary, the p.Leu336Val variant in MECP2 is classified as a variant of uncertain significance based on the ACMG/AMP criteria (PM2_supporting).

PM2_Supporting

The p.Leu348Val variant in MECP2 is absent from gnomAD

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