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]
  • See Evidence submitted by expert panel for details.

Variant: NM_004992.3(MECP2):c.1030C>T (p.Arg344Trp)

CA270179

143309 (ClinVar)

Gene: MECP2
Condition: Rett syndrome
Inheritance Mode: X-linked inheritance
Link to MONDO
UUID: 21ffb64d-8c26-49f1-b485-49b92c825bfc
Approved on: 2021-03-26
Published on: 2021-05-17

HGVS expressions

NM_004992.3:c.1030C>T
NM_004992.3(MECP2):c.1030C>T (p.Arg344Trp)
NC_000023.11:g.154030798G>A
CM000685.2:g.154030798G>A
NC_000023.10:g.153296249G>A
CM000685.1:g.153296249G>A
NC_000023.9:g.152949443G>A
NG_007107.2:g.111330C>T
NG_007107.3:g.111306C>T
ENST00000303391.11:c.1030C>T
ENST00000453960.7:c.1066C>T
ENST00000303391.10:c.1030C>T
ENST00000407218.5:c.*402C>T
ENST00000453960.6:c.1066C>T
ENST00000619732.4:c.1030C>T
ENST00000628176.2:c.*402C>T
NM_001110792.1:c.1066C>T
NM_001316337.1:c.751C>T
NM_001110792.2:c.1066C>T
NM_001316337.2:c.751C>T
NM_001369391.2:c.751C>T
NM_001369392.2:c.751C>T
NM_001369393.2:c.751C>T
NM_001369394.1:c.751C>T
NM_001369394.2:c.751C>T
NM_001386137.1:c.361C>T
NM_001386138.1:c.361C>T
NM_001386139.1:c.361C>T
NM_004992.4:c.1030C>T
More

Benign

Met criteria codes 2
BS1 BS2
Not Met criteria codes 3
PP4 PM2 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 allele frequency of the p.R344W variant in MECP2 is 0.01% in South Asian sub population in gnomAD, which is high enough to be classified as likely benign based on thresholds defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like conditions (BS1). The p.R344W variant is observed in at least 2 unaffected individuals (internal database) (BS2). In summary, the p.R344W variant in MECP2 is classified as benign based on the ACMG/AMP criteria (BS1, BS2).
Met criteria codes
BS1
The allele frequency of the p.R344W variant in MECP2 is 0.01% in South Asian sub population in gnomAD, which is high enough to be classified as likely benign based on thresholds defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like conditions.
BS2
The p.R344W variant is observed in at least 2 unaffected individuals (internal database)
Not Met criteria codes
PP4
The patient is reported to have a clinical phenotype suggestive of Rett Syndrome PMID:22277191) (PP4) - Not applicable in presence of such strong benign criteria, paper cited is from 2012, prior to large public control databases
PM2
Not absent
PS4
Two independent cases have been observed in the literature with Rett Syndrome (PMID: 12161600,22277191) Not met as this variant is observed in gnomAD non Neuro population.
Curation History
The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. If you have questions about the information contained on this website, please see a health care professional.
¤ Powered by BCM's Genboree.