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NM_014023.4(WDR37):c.356C>T (p.Ser119Phe) AND multiple conditions

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
May 6, 2019
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:
RCV000855660.3

Allele description [Variation Report for NM_014023.4(WDR37):c.356C>T (p.Ser119Phe)]

NM_014023.4(WDR37):c.356C>T (p.Ser119Phe)

Gene:
WDR37:WD repeat domain 37 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10p15.3
Genomic location:
Preferred name:
NM_014023.4(WDR37):c.356C>T (p.Ser119Phe)
HGVS:
  • NC_000010.11:g.1080436C>T
  • NM_014023.4:c.356C>TMANE SELECT
  • NP_054742.2:p.Ser119Phe
  • NC_000010.10:g.1126376C>T
  • NM_014023.3:c.356C>T
Protein change:
S119F; SER119PHE
Links:
OMIM: 618586.0002; dbSNP: rs1589088690
NCBI 1000 Genomes Browser:
rs1589088690
Molecular consequence:
  • NM_014023.4:c.356C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Congenital cerebellar hypoplasia (CHEGDD)
Synonyms:
Isolated cerebellar hypoplasia/agenesis; Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay
Identifiers:
MONDO: MONDO:0008939; MedGen: C5231391; Orphanet: 2246; OMIM: 213000
Name:
Epilepsy
Synonyms:
Seizure Disorders; Seizure disorder
Identifiers:
MONDO: MONDO:0005027; MeSH: D004827; MedGen: C0014544
Name:
Congenital ocular coloboma
Synonyms:
COLOBOMA OF IRIS, CHOROID, AND RETINA; COLOBOMA, UVEORETINAL; Coloboma of eye; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0001476; MedGen: C0009363; Orphanet: 194; Human Phenotype Ontology: HP:0000589
Name:
Intellectual disability
Synonyms:
Intellectual functioning disability; intellectual disabilities; Intellectual developmental disorder
Identifiers:
MONDO: MONDO:0001071; MeSH: D008607; MedGen: C3714756; Human Phenotype Ontology: HP:0001249
Name:
Dysmorphism
Identifiers:
MedGen: C1737329
Name:
Developmental delay
Identifiers:
MedGen: C0424605

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000920634Undiagnosed Diseases Program Translational Research Laboratory, National Institutes of Health
criteria provided, single submitter

(UDP ClinVar Assertion WDR37 050619)		Likely pathogenic
(May 6, 2019) 		de novoresearch

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not providednot providednot providednot providedresearch

Details of each submission

From Undiagnosed Diseases Program Translational Research Laboratory, National Institutes of Health, SCV000920634.1

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

Last Updated: Apr 20, 2024