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NM_018941.4(CLN8):c.789G>C (p.Trp263Cys) AND Neuronal ceroid lipofuscinosis 8

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 1, 2004
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:
RCV000002937.4

Allele description [Variation Report for NM_018941.4(CLN8):c.789G>C (p.Trp263Cys)]

NM_018941.4(CLN8):c.789G>C (p.Trp263Cys)

Gene:
CLN8:CLN8 transmembrane ER and ERGIC protein [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
8p23.3
Genomic location:
Preferred name:
NM_018941.4(CLN8):c.789G>C (p.Trp263Cys)
HGVS:
  • NC_000008.11:g.1780495G>C
  • NG_008656.2:g.29718G>C
  • NM_018941.4:c.789G>CMANE SELECT
  • NP_061764.2:p.Trp263Cys
  • LRG_691:g.29718G>C
  • NC_000008.10:g.1728661G>C
  • Q9UBY8:p.Trp263Cys
Protein change:
W263C; TRP263CYS
Links:
UniProtKB: Q9UBY8#VAR_026557; OMIM: 607837.0002; dbSNP: rs28940569
NCBI 1000 Genomes Browser:
rs28940569
Molecular consequence:
  • NM_018941.4:c.789G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Neuronal ceroid lipofuscinosis 8 (CLN8)
Synonyms:
CLN8-Related Neuronal Ceroid-Lipofuscinosis
Identifiers:
MONDO: MONDO:0010830; MedGen: C1838570; Orphanet: 168491; Orphanet: 228354; Orphanet: 79264; OMIM: 600143

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000023095OMIM
no assertion criteria provided
Pathogenic
(Jan 1, 2004) 		germlineliterature only

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Evaluation of 36 patients from Turkey with neuronal ceroid lipofuscinosis: clinical, neurophysiological, neuroradiological and histopathologic studies.

Topçu M, Tan H, Yalnizoğlu D, Usubütün A, Saatçi I, Aynaci M, Anlar B, Topaloğlu H, Turanli G, Köse G, Aysun S.

Turk J Pediatr. 2004 Jan-Mar;46(1):1-10.

PubMed [citation]
PMID:
15074367

The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8.

Ranta S, Zhang Y, Ross B, Lonka L, Takkunen E, Messer A, Sharp J, Wheeler R, Kusumi K, Mole S, Liu W, Soares MB, Bonaldo MF, Hirvasniemi A, de la Chapelle A, Gilliam TC, Lehesjoki AE.

Nat Genet. 1999 Oct;23(2):233-6.

PubMed [citation]
PMID:
10508524

Details of each submission

From OMIM, SCV000023095.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

In affected members of 3 families with the so-called Turkish variant of late infantile CLN, originally reported by Topcu et al. (2004), Ranta et al. (2004) identified homozygosity for a 789G-C transversion in exon 3 of the CLN8 gene, resulting in a trp263-to-cys (W263C) mutation. The findings indicated that these patients in fact had CLN8 (600143). In affected members of another Turkish family reported by Topcu et al. (2004), Ranta et al. (2004) found compound heterozygosity for W263C and R204C (607837.0003).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 20, 2024