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NM_001110792.2(MECP2):c.940C>T (p.Pro314Ser)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Jan 30, 2020
Accession:
VCV000143735.5
Variation ID:
143735
Description:
single nucleotide variant
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NM_001110792.2(MECP2):c.940C>T (p.Pro314Ser)

Allele ID
153467
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
Xq28
Genomic location
X: 154030924 (GRCh38) GRCh38 UCSC
X: 153296375 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_764:g.111180C>T
LRG_764t1:c.940C>T LRG_764p1:p.Pro314Ser
LRG_764t2:c.904C>T LRG_764p2:p.Pro302Ser
... more HGVS
Protein change
P302S, P314S, P209S, P79S
Other names
-
Canonical SPDI
NC_000023.11:154030923:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA270567
dbSNP: rs61751373
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Jan 15, 2020 RCV001067586.2
Likely pathogenic 1 criteria provided, single submitter Jan 30, 2020 RCV001286649.2
Uncertain significance 1 no assertion criteria provided Nov 1, 2007 RCV000133278.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
MECP2 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
1341 1603

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Jan 30, 2020)
criteria provided, single submitter
Method: clinical testing
none provided
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV001473257.1
Submitted: (Dec 11, 2020)
Evidence details
Comment:
The MECP2 c.904C>T; p.Pro302Ser variant (rs61751373) is reported in the literature an individual with classical Rett syndrome (Zahorakova 2007). Additionally, other amino acid substitutions at … (more)
Pathogenic
(Jan 15, 2020)
criteria provided, single submitter
Method: clinical testing
Severe neonatal-onset encephalopathy with microcephaly
Allele origin: germline
Invitae
Accession: SCV001232654.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (5)
Comment:
This sequence change replaces proline with serine at codon 302 of the MECP2 protein (p.Pro302Ser). The proline residue is highly conserved and there is a … (more)
Uncertain significance
(Nov 01, 2007)
no assertion criteria provided
Method: curation
Rett syndrome
Allele origin: unknown
RettBASE
Accession: SCV000188286.2
Submitted: (Nov 21, 2014)
Evidence details

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms. Zahorakova D Journal of human genetics 2007 PMID: 17387578
Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms. Fukuda T Brain & development 2005 PMID: 15737703
MECP2 mutations account for most cases of typical forms of Rett syndrome. Bienvenu T Human molecular genetics 2000 PMID: 10814719
Rett syndrome: analysis of MECP2 and clinical characterization of 31 patients. Huppke P Human molecular genetics 2000 PMID: 10814718
Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location. Cheadle JP Human molecular genetics 2000 PMID: 10767337

Text-mined citations for rs61751373...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Dec 04, 2021