NM_015335.5(MED13L):c.4358A>C (p.His1453Pro) AND Rare genetic intellectual disability

Clinical significance:Likely pathogenic

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001256983.1

Allele description [Variation Report for NM_015335.5(MED13L):c.4358A>C (p.His1453Pro)]

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

Gene:
MED13L:mediator complex subunit 13L [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q24.21
Genomic location:
Preferred name:
NM_015335.5(MED13L):c.4358A>C (p.His1453Pro)
HGVS:
  • NC_000012.12:g.115984353T>G
  • NG_023366.1:g.297834A>C
  • NM_015335.5:c.4358A>CMANE SELECT
  • NP_056150.1:p.His1453Pro
  • NC_000012.11:g.116422158T>G
  • NM_015335.4:c.4358A>C
Protein change:
H1453P
Links:
Molecular consequence:
  • NM_015335.5:c.4358A>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Rare genetic intellectual disability
Identifiers:
MedGen: CN283358

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001433529Service de Génétique Moléculaire,Hôpital Robert Debréno assertion criteria providedLikely pathogenicde novoclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyesnot provided1not providednot providednot providedclinical testing

Details of each submission

From Service de Génétique Moléculaire,Hôpital Robert Debré, SCV001433529.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot providednot providednot provided1not provided

Last Updated: Mar 7, 2021

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