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NM_015335.5(MED13L):c.4076G>A (p.Trp1359Ter)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
3 (Most recent: Nov 16, 2020)
Last evaluated:
Jan 22, 2019
Accession:
VCV000817519.3
Variation ID:
817519
Description:
single nucleotide variant
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NM_015335.5(MED13L):c.4076G>A (p.Trp1359Ter)

Allele ID
805724
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12q24.21
Genomic location
12: 115987147 (GRCh38) GRCh38 UCSC
12: 116424952 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.11:g.116424952C>T
NC_000012.12:g.115987147C>T
NG_023366.1:g.295040G>A
NM_015335.5:c.4076G>A MANE Select NP_056150.1:p.Trp1359Ter nonsense
Protein change
W1359*
Other names
-
Canonical SPDI
NC_000012.12:115987146:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1592919048
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 22, 2019 RCV001008662.1
Pathogenic 1 no assertion criteria provided Jun 21, 2016 RCV001265126.1
Likely pathogenic 1 no assertion criteria provided - RCV001291369.1

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
503 520

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Jan 22, 2019)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001168441.1
Submitted: (Oct 15, 2019)
Evidence details
Comment:
The W1359X nonsense variant in the MED13L gene has been reported previously as a de novo change in association with autism spectrum disorder (Wang et … (more)
Pathogenic
(Jun 21, 2016)
no assertion criteria provided
Method: provider interpretation
Mental retardation and distinctive facial features with or without cardiac defects
Allele origin: de novo
GenomeConnect - Simons Searchlight
Accession: SCV001443159.1
Submitted: (Oct 23, 2020)
Evidence details
Comment:
Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2016-06-21 and interpreted as Pathogenic. Variant was initially … (more)
Likely pathogenic
(-)
no assertion criteria provided
Method: research
Autism spectrum disorder
Allele origin: de novo
University of Washington Center for Mendelian Genomics, University of Washington
Accession: SCV001479843.1
Submitted: (Nov 16, 2020)
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
Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes. Guo H Genetics in medicine : official journal of the American College of Medical Genetics 2019 PMID: 30504930

Text-mined citations for rs1592919048...

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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 Oct 02, 2021