Evidence Repository
The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]
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Variant: NM_001110792.1(MECP2):c.1483G>T (p.Glu495Ter)

CA156430

133342 (ClinVar)

Gene: MECP2
Condition: Rett syndrome
Inheritance Mode: X-linked inheritance
Link to MONDO
UUID: 62d4086b-b03e-43a3-b2c6-2993d86a62a8
Approved on: 2023-08-23
Published on: 2023-09-15

HGVS expressions

NM_001110792.1:c.1483G>T
NM_001110792.1(MECP2):c.1483G>T (p.Glu495Ter)
NC_000023.11:g.154030381C>A
CM000685.2:g.154030381C>A
NC_000023.10:g.153295832C>A
CM000685.1:g.153295832C>A
NC_000023.9:g.152949026C>A
NG_007107.2:g.111747G>T
NG_007107.3:g.111723G>T
ENST00000303391.11:c.1447G>T
ENST00000453960.7:c.1483G>T
ENST00000303391.10:c.1447G>T
ENST00000453960.6:c.1483G>T
ENST00000619732.4:c.1447G>T
ENST00000628176.2:c.*819G>T
NM_001316337.1:c.1168G>T
NM_004992.3:c.1447G>T
NM_001110792.2:c.1483G>T
NM_001316337.2:c.1168G>T
NM_001369391.2:c.1168G>T
NM_001369392.2:c.1168G>T
NM_001369393.2:c.1168G>T
NM_001369394.1:c.1168G>T
NM_001369394.2:c.1168G>T
NM_001386137.1:c.778G>T
NM_001386138.1:c.778G>T
NM_001386139.1:c.778G>T
NM_004992.4:c.1447G>T
NM_001110792.2(MECP2):c.1483G>T (p.Glu495Ter)

Uncertain Significance

Met criteria codes 2
PM2_Supporting PVS1_Moderate
Not Met criteria codes 1
PS4

Evidence Links 0

Expert Panel

Criteria Specification Information

Criteria Specifications for this VCEP
Evidence submitted by expert panel
Rett and Angelman-like Disorders VCEP
The p.Glu483Ter variant in MECP2 (NM_004992.4) is predicted to cause a premature stop codon that leads to a truncated or absent protein in a gene where loss-of-function is an established mechanism. While loss-of-function variants are commonly observed in affected individuals in this gene, there is a paucity of these variants in this region of the gene to date (PVS1_Moderate). The p.Glu483Ter variant in MECP2 is absent from gnomAD (PM2_Supporting). This variant was reported in two male siblings with autism who inherited the p.Glu483Ter variant from their unaffected mother (PMID 23352163). In summary, the p.Glu483Ter variant in MECP2 is classified as variant of unknown significance based on the ACMG/AMP criteria (PVS1_Moderate, PM2_Supporting).
Met criteria codes
PM2_Supporting
The p.Glu495Ter variant in MECP2 is absent from gnomAD
PVS1_Moderate
The p.Glu483Ter variant in MECP2 is predicted to cause a premature stop codon that leads to a truncated or absent protein in a gene where loss-of-function is an established mechanism. While loss-of-function variants are commonly observed in affected individuals in this gene, there is a paucity of these variants in this region of the gene to date
Not Met criteria codes
PS4
This variant was reported in two male siblings with autism who inherited E483X from their unaffected mother.
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