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_001110792.2(MECP2):c.604C>T (p.Arg202Cys)

CA294710

156667 (ClinVar)

Gene: MECP2
Condition: Rett syndrome
Inheritance Mode: X-linked inheritance
Link to MONDO
UUID: 5c42f539-b240-41c6-9a1a-8bcaf2d446f4
Approved on: 2021-12-31
Published on: 2021-12-31

HGVS expressions

NM_001110792.2:c.604C>T
NM_001110792.2(MECP2):c.604C>T (p.Arg202Cys)
NC_000023.11:g.154031260G>A
CM000685.2:g.154031260G>A
NC_000023.10:g.153296711G>A
CM000685.1:g.153296711G>A
NC_000023.9:g.152949905G>A
NG_007107.2:g.110868C>T
NG_007107.3:g.110844C>T
ENST00000303391.11:c.568C>T
ENST00000453960.7:c.604C>T
ENST00000637917.1:n.65+136C>T
ENST00000303391.10:c.568C>T
ENST00000407218.5:c.495C>T
ENST00000453960.6:c.604C>T
ENST00000619732.4:c.568C>T
ENST00000622433.4:c.556C>T
ENST00000628176.2:c.459C>T
NM_001110792.1:c.604C>T
NM_001316337.1:c.289C>T
NM_004992.3:c.568C>T
NM_001316337.2:c.289C>T
NM_001369391.2:c.289C>T
NM_001369392.2:c.289C>T
NM_001369393.2:c.289C>T
NM_001369394.1:c.289C>T
NM_001369394.2:c.289C>T
NM_001386137.1:c.-102C>T
NM_001386138.1:c.-102C>T
NM_001386139.1:c.-102C>T
NM_004992.4:c.568C>T

Uncertain Significance

Met criteria codes 1
BS2_Supporting
Not Met criteria codes 2
PS2 PM5

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.Arg190Cys (NM_004992.3) variant is observed in at least 1 unaffected adult individual (GeneDx internal database) (BS2_supporting). The p.Arg190Cys variant in MECP2 has been reported as a de novo occurrence (biological parentage confirmed) in an individual with schizophrenia (PMID 24776741) (PS2 - not met as patient was not described to have features of Rett syndrome). A missense variant (p.Arg190His) has been previously identified within this codon which may indicate that this residue is critical to the function of the protein; however, this variant is not currently classified as pathogenic by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like conditions (PM5- not met). In summary, the p.Arg190Cys variant in MECP2 is classified as a variant of uncertain significance based on the ACMG/AMP criteria (BS2_supporting).
Met criteria codes
BS2_Supporting
The p.Arg202Cys variant is observed in at least 1 unaffected individual (GeneDx internal database)
Not Met criteria codes
PS2
The p.R190C variant in MECP2 has been reported as a de novo occurrence (biological parentage confirmed) in an individual with schizophrenia (PMID 24776741) (PS2 - not met due as patient was not described to have features of Rett syndrome).
PM5
A missense variant (p.R190H) has been previously identified within this codon which may indicate that this residue is critical to the function of the protein; however, this variant is not currently classified as pathogenic by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like conditions (PM5- not met).
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