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NM_003359.4(UGDH):c.131C>T (p.Ala44Val) AND West syndrome

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Dec 15, 2023
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV003490002.2

Allele description [Variation Report for NM_003359.4(UGDH):c.131C>T (p.Ala44Val)]

NM_003359.4(UGDH):c.131C>T (p.Ala44Val)

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.131C>T (p.Ala44Val)
Other names:
NP_003350.1:p.(Ala44Val)
HGVS:
  • NC_000004.12:g.39521382G>A
  • NM_001184700.2:c.131C>T
  • NM_001184701.2:c.-130+5901C>T
  • NM_003359.4:c.131C>TMANE SELECT
  • NP_001171629.1:p.Ala44Val
  • NP_003350.1:p.Ala44Val
  • NC_000004.11:g.39523002G>A
  • NM_003359.3:c.131C>T
Protein change:
A44V; ALA44VAL
Links:
OMIM: 603370.0001; dbSNP: rs749975104
NCBI 1000 Genomes Browser:
rs749975104
Molecular consequence:
  • NM_001184701.2:c.-130+5901C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001184700.2:c.131C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003359.4:c.131C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
West syndrome
Identifiers:
MONDO: MONDO:0018097; MedGen: C0037769

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV004232652Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan
criteria provided, single submitter

(ACMG Guidelines, 2015)
Likely pathogenic
(Dec 15, 2023)
biparentalclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedbiparentalyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan, SCV004232652.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

Zygosity: Homozygous

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1biparentalyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Jun 23, 2024