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NM_015041.3(CLUAP1):c.338T>G (p.Met113Arg) AND Familial aplasia of the vermis

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Sep 7, 2016
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:
RCV000496983.1

Allele description [Variation Report for NM_015041.3(CLUAP1):c.338T>G (p.Met113Arg)]

NM_015041.3(CLUAP1):c.338T>G (p.Met113Arg)

Gene:
CLUAP1:clusterin associated protein 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16p13.3
Genomic location:
Preferred name:
NM_015041.3(CLUAP1):c.338T>G (p.Met113Arg)
HGVS:
  • NC_000016.10:g.3508407T>G
  • NG_047131.1:g.12463T>G
  • NM_001330454.2:c.338T>G
  • NM_015041.3:c.338T>GMANE SELECT
  • NP_001317383.1:p.Met113Arg
  • NP_055856.1:p.Met113Arg
  • NC_000016.9:g.3558407T>G
  • NM_015041.2:c.338T>G
Protein change:
M113R
Links:
dbSNP: rs768663992
NCBI 1000 Genomes Browser:
rs768663992
Molecular consequence:
  • NM_001330454.2:c.338T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015041.3:c.338T>G - missense variant - [Sequence Ontology: SO:0001583]

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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000299273Biesecker Lab/Clinical Genomics Section, National Institutes of Health
no assertion criteria provided
Likely pathogenic
(Sep 7, 2016) 		germlineresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
germlineyes1not providednot providednot providednot providedresearch

Citations

PubMed

Compound heterozygous alterations in intraflagellar transport protein CLUAP1 in a child with a novel Joubert and oral-facial-digital overlap syndrome.

Johnston JJ, Lee C, Wentzensen IM, Parisi MA, Crenshaw MM, Sapp JC, Gross JM, Wallingford JB, Biesecker LG.

Cold Spring Harb Mol Case Stud. 2017 Jul 5;3(4). doi: 10.1101/mcs.a001321. Print 2017 Jul.

PubMed [citation]
PMID:
28679688
PMCID:
PMC5495032

Details of each submission

From Biesecker Lab/Clinical Genomics Section, National Institutes of Health, SCV000299273.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedresearch PubMed (1)

Description

Exome analysis revealed two alterations in CLUAP1 in an individual with Joubert syndrome. This alternation and NM_015041.2:c.688C>T were determined to be in trans based on parental analysis. Genes known to cause Joubert syndrome are involved in primary cilia function and this alteration in CLUAP1 was shown to have an effect on intraflagellar transport. Additionally, this variant is rare in the ExAC database. This is the first report of alterations in CLUAP1 in an individual with Joubert syndrome and identifying additional Joubert patients with alterations in CLUAP1 will help confirm the pathogenicity of these variants.

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

Last Updated: Jun 10, 2023