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NM_002397.5(MEF2C):c.638-1G>A

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Aug 2, 2020
Accession:
VCV001066205.1
Variation ID:
1066205
Description:
single nucleotide variant
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NM_002397.5(MEF2C):c.638-1G>A

Allele ID
1055536
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q14.3
Genomic location
5: 88731902 (GRCh38) GRCh38 UCSC
5: 88027719 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.88731902C>T
NC_000005.9:g.88027719C>T
NG_023427.1:g.177204G>A
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000005.10:88731901:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Aug 2, 2020 RCV001377142.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
MEF2C Sufficient evidence for dosage pathogenicity Little evidence for dosage pathogenicity GRCh38
GRCh37
257 334

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Aug 02, 2020)
criteria provided, single submitter
Method: clinical testing
Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations
Allele origin: germline
Invitae
Accession: SCV001574383.1
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (2)
Comment:
This sequence change affects an acceptor splice site in intron 6 of the MEF2C gene. It is expected to disrupt RNA splicing and likely results … (more)

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
Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression. Zweier M Human mutation 2010 PMID: 20513142
Splicing in action: assessing disease causing sequence changes. Baralle D Journal of medical genetics 2005 PMID: 16199547

Record last updated Sep 23, 2021