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NM_015335.5(MED13L):c.4358A>C (p.His1453Pro)

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Interpretation:
Likely pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Mar 26, 2020)
Accession:
VCV000978380.1
Variation ID:
978380
Description:
single nucleotide variant
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NM_015335.5(MED13L):c.4358A>C (p.His1453Pro)

Allele ID
966519
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12q24.21
Genomic location
12: 115984353 (GRCh38) GRCh38 UCSC
12: 116422158 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.11:g.116422158T>G
NC_000012.12:g.115984353T>G
NM_015335.5:c.4358A>C MANE Select NP_056150.1:p.His1453Pro missense
NG_023366.1:g.297834A>C
Protein change
H1453P
Other names
-
Canonical SPDI
NC_000012.12:115984352:T:G
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 no assertion criteria provided - RCV001256983.1
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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
503 520

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(-)
no assertion criteria provided
Method: clinical testing
Rare genetic intellectual disability
Allele origin: de novo
Service de Génétique Moléculaire,Hôpital Robert Debré
Accession: SCV001433529.1
Submitted: (Mar 26, 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 Mar 07, 2021