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NM_015335.4(MED13L):c.5588+1G>A

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Oct 23, 2020)
Last evaluated:
Jan 6, 2017
Accession:
VCV000431140.2
Variation ID:
431140
Description:
single nucleotide variant
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NM_015335.4(MED13L):c.5588+1G>A

Allele ID
424659
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12q24.21
Genomic location
12: 115975514 (GRCh38) GRCh38 UCSC
12: 116413319 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.11:g.116413319C>T
NC_000012.12:g.115975514C>T
NG_023366.1:g.306673G>A
NM_015335.4:c.5588+1G>A splice donor
Protein change
-
Other names
-
Canonical SPDI
NC_000012.12:115975513:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA386878825
dbSNP: rs1135401810
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 2 criteria provided, single submitter Jan 6, 2017 RCV000496142.2

Clinical features observed in individuals with this variant

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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
MED13L Sufficient evidence for dosage pathogenicity Little evidence for dosage pathogenicity GRCh38
GRCh37
506 523

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Jan 06, 2017)
criteria provided, single submitter
Method: clinical testing
Mental retardation and distinctive facial features with or without cardiac defects
Allele origin: de novo
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement,Assistance Publique Hopitaux de Paris
Accession: SCV000586777.1
Submitted: (Aug 01, 2017)
Evidence details
Publications
PubMed (1)
Comment:
Intellectual disability, moderate; pyramidal syndrome; overweight
Likely pathogenic
(Feb 21, 2017)
no assertion criteria provided
Method: provider interpretation
Mental retardation and distinctive facial features with or without cardiac defects
Allele origin: inherited
GenomeConnect - Simons Searchlight
Accession: SCV001443162.1
Submitted: (Oct 23, 2020)
Evidence details
Comment:
Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2017-02-21 and interpreted as Likely Pathogenic. Variant was … (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
Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients. Chérot E Clinical genetics 2018 PMID: 28708303

Text-mined citations for rs1135401810...

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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 Sep 25, 2021