NM_003359.4(UGDH):c.374T>C (p.Ile125Thr) AND Epileptic encephalopathy

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Oct 1, 2019
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000999486.2

Allele description [Variation Report for NM_003359.4(UGDH):c.374T>C (p.Ile125Thr)]

NM_003359.4(UGDH):c.374T>C (p.Ile125Thr)

Gene:

UGDH:UDP-glucose 6-dehydrogenase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

4p14

Genomic location:

Preferred name:

NM_003359.4(UGDH):c.374T>C (p.Ile125Thr)

HGVS:

NC_000004.12:g.39510752A>G
NM_001184700.2:c.265-202T>C
NM_001184701.2:c.83T>C
NM_003359.4:c.374T>CMANE SELECT
NP_001171630.1:p.Ile28Thr
NP_003350.1:p.Ile125Thr
NC_000004.11:g.39512372A>G
NM_003359.3:c.374T>C

Protein change:

I125T

Links:

dbSNP: rs1578270476

NCBI 1000 Genomes Browser:

rs1578270476

Molecular consequence:

NM_001184700.2:c.265-202T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001184701.2:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_003359.4:c.374T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Epileptic encephalopathy
Identifiers:: MedGen: C0543888; Human Phenotype Ontology: HP:0200134

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001156127	Section for Clinical Neurogenetics, University of Tübingen	no assertion criteria provided	Likely pathogenic (Oct 1, 2019)	germline	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001156127

Section for Clinical Neurogenetics, University of Tübingen

no assertion criteria provided

Likely pathogenic
(Oct 1, 2019)

germline

research

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	research

Citations

PubMed

Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy.

Hengel H, Bosso-Lefèvre C, Grady G, Szenker-Ravi E, Li H, Pierce S, Lebigot É, Tan TT, Eio MY, Narayanan G, Utami KH, Yau M, Handal N, Deigendesch W, Keimer R, Marzouqa HM, Gunay-Aygun M, Muriello MJ, Verhelst H, Weckhuysen S, Mahida S, Naidu S, et al.

Nat Commun. 2020 Jan 30;11(1):595. doi: 10.1038/s41467-020-14360-7.

PubMed [citation]

PMID:: 32001716
PMCID:: PMC6992768

Details of each submission

From Section for Clinical Neurogenetics, University of Tübingen, SCV001156127.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jun 23, 2024

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