NM_001308120.2(TOGARAM1):c.1124T>C (p.Leu375Pro) AND Joubert syndrome

Clinical significance:Pathogenic (Last evaluated: May 26, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV001257976.2

Allele description [Variation Report for NM_001308120.2(TOGARAM1):c.1124T>C (p.Leu375Pro)]

NM_001308120.2(TOGARAM1):c.1124T>C (p.Leu375Pro)

Gene:
TOGARAM1:TOG array regulator of axonemal microtubules 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q21.2
Genomic location:
Preferred name:
NM_001308120.2(TOGARAM1):c.1124T>C (p.Leu375Pro)
HGVS:
  • NC_000014.9:g.44963545T>C
  • NM_001308120.2:c.1124T>CMANE SELECT
  • NM_015091.4:c.1124T>C
  • NP_001295049.1:p.Leu375Pro
  • NP_055906.2:p.Leu375Pro
  • NC_000014.8:g.45432748T>C
  • NM_015091.2:c.1124T>C
  • NR_131765.2:n.1356T>C
Protein change:
L375P; LEU375PRO
Links:
OMIM: 617618.0001
Molecular consequence:
  • NM_001308120.2:c.1124T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015091.4:c.1124T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_131765.2:n.1356T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Joubert syndrome (JBTS)
Synonyms:
CEREBELLOPARENCHYMAL DISORDER IV; Cerebelloparenchymal disorder 4; Cerebellar vermis agenesis; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0018772; MedGen: C0431399; Orphanet: 475; OMIM: PS213300; Human Phenotype Ontology: HP:0002335

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001434789University of Washington Center for Mendelian Genomics, University of Washingtonno assertion criteria providedLikely pathogenicpaternalresearch

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

SCV001442533UW Hindbrain Malformation Research Program,University of Washingtoncriteria provided, single submitter
Pathogenic
(May 26, 2020)
paternalresearch

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod

Citations

PubMed

Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndrome.

Latour BL, Van De Weghe JC, Rusterholz TD, Letteboer SJ, Gomez A, Shaheen R, Gesemann M, Karamzade A, Asadollahi M, Barroso-Gil M, Chitre M, Grout ME, van Reeuwijk J, van Beersum SE, Miller CV, Dempsey JC, Morsy H; University of Washington Center for Mendelian Genomics., Bamshad MJ; Genomics England Research Consortium., Nickerson DA, Neuhauss SC, et al.

J Clin Invest. 2020 Aug 3;130(8):4423-4439. doi: 10.1172/JCI131656.

PubMed [citation]
PMID:
32453716
PMCID:
PMC7410078

Details of each submission

From University of Washington Center for Mendelian Genomics, University of Washington, SCV001434789.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1paternalyesnot providednot providednot providednot providednot providednot providednot provided

From UW Hindbrain Malformation Research Program,University of Washington, SCV001442533.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1paternalyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 14, 2021

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