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NM_015335.5(MED13L):c.442C>T (p.Arg148Ter)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: May 30, 2020)
Last evaluated:
Apr 20, 2020
Accession:
VCV000978877.1
Variation ID:
978877
Description:
single nucleotide variant
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NM_015335.5(MED13L):c.442C>T (p.Arg148Ter)

Allele ID
966986
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12q24.21
Genomic location
12: 116096706 (GRCh38) GRCh38 UCSC
12: 116534511 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.11:g.116534511G>A
NC_000012.12:g.116096706G>A
NM_015335.5:c.442C>T MANE Select NP_056150.1:p.Arg148Ter nonsense
NG_023366.1:g.185481C>T
Protein change
R148*
Other names
-
Canonical SPDI
NC_000012.12:116096705:G:A
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
Pathogenic 1 criteria provided, single submitter Apr 20, 2020 RCV001257650.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
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
(Apr 20, 2020)
criteria provided, single submitter
Method: clinical testing
Intellectual disability
(Autosomal dominant inheritance)
Allele origin: de novo
Diagnostic Laboratory, Strasbourg University Hospital
Accession: SCV001434460.1
Submitted: (May 30, 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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Record last updated Aug 17, 2021