NM_001308120.2(TOGARAM1):c.1112C>A (p.Ala371Asp) AND Familial aplasia of the vermis

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: May 26, 2020
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:: RCV001258005.2

Allele description [Variation Report for NM_001308120.2(TOGARAM1):c.1112C>A (p.Ala371Asp)]

NM_001308120.2(TOGARAM1):c.1112C>A (p.Ala371Asp)

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.1112C>A (p.Ala371Asp)

HGVS:

NC_000014.9:g.44963533C>A
NM_001308120.2:c.1112C>AMANE SELECT
NM_015091.4:c.1112C>A
NP_001295049.1:p.Ala371Asp
NP_055906.2:p.Ala371Asp
NC_000014.8:g.45432736C>A
NM_015091.2:c.1112C>A
NM_015091.3:c.1112C>A
NR_131765.2:n.1344C>A

Protein change:

A371D

Links:

dbSNP: rs370676288

NCBI 1000 Genomes Browser:

rs370676288

Molecular consequence:

NM_001308120.2:c.1112C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_015091.4:c.1112C>A - missense variant - [Sequence Ontology: SO:0001583]
NR_131765.2:n.1344C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Familial aplasia of the vermis
Synonyms:: CEREBELLOPARENCHYMAL DISORDER IV; Joubert syndrome; Cerebelloparenchymal disorder 4; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0018772; MedGen: C0431399; Orphanet: 475; OMIM: PS213300

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001434819	University of Washington Center for Mendelian Genomics, University of Washington	no assertion criteria provided	Likely pathogenic	unknown	research	PubMed (1) [See all records that cite this PMID]
SCV001442537	UW Hindbrain Malformation Research Program, University of Washington	criteria provided, single submitter (Latour BL et al. (J Clin Invest 2020))	Pathogenic (May 26, 2020)	maternal	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001434819

University of Washington Center for Mendelian Genomics, University of Washington

no assertion criteria provided

Likely pathogenic

unknown

research

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

SCV001442537

UW Hindbrain Malformation Research Program, University of Washington

criteria provided, single submitter

(Latour BL et al. (J Clin Invest 2020))

Pathogenic
(May 26, 2020)

maternal

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	maternal	yes	not provided	not provided	not provided	not provided	not provided	research
not provided	unknown	yes	not provided	not provided	not provided	not provided	not provided	research

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, SCV001434819.1

#	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	unknown	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From UW Hindbrain Malformation Research Program, University of Washington, SCV001442537.1

#	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	maternal	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jun 10, 2023

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