NM_017882.3(CLN6):c.898T>C (p.Trp300Arg) AND Neuronal ceroid lipofuscinosis 6

Clinical significance:Uncertain significance (Last evaluated: May 23, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000675067.1

Allele description [Variation Report for NM_017882.3(CLN6):c.898T>C (p.Trp300Arg)]

NM_017882.3(CLN6):c.898T>C (p.Trp300Arg)

Gene:
CLN6:CLN6 transmembrane ER protein [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q23
Genomic location:
Preferred name:
NM_017882.3(CLN6):c.898T>C (p.Trp300Arg)
HGVS:
  • NC_000015.10:g.68208178A>G
  • NG_008764.2:g.54034T>C
  • NM_017882.3:c.898T>CMANE SELECT
  • NP_060352.1:p.Trp300Arg
  • LRG_832t1:c.898T>C
  • LRG_832:g.54034T>C
  • LRG_832p1:p.Trp300Arg
  • NC_000015.9:g.68500516A>G
  • NM_017882.2:c.898T>C
Protein change:
W300R
Links:
dbSNP: rs750937323
NCBI 1000 Genomes Browser:
rs750937323
Molecular consequence:
  • NM_017882.3:c.898T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Neuronal ceroid lipofuscinosis 6 (CLN6)
Synonyms:
CEROID LIPOFUSCINOSIS, NEURONAL, 6, VARIABLE AGE AT ONSET; Neuronal ceroid lipofuscinosis, Gypsy/Indian early juvenile variant; CLN6-Related Neuronal Ceroid-Lipofuscinosis
Identifiers:
MONDO: MONDO:0011144; MedGen: C1866282; Orphanet: 168491; OMIM: 601780

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000800542Counsylcriteria provided, single submitter
Uncertain significance
(May 23, 2017)
unknownclinical testing

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

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Novel mutations in the CLN6 gene causing a variant late infantile neuronal ceroid lipofuscinosis.

Teixeira CA, Espinola J, Huo L, Kohlschütter J, Persaud Sawin DA, Minassian B, Bessa CJ, Guimarães A, Stephan DA, Sá Miranda MC, MacDonald ME, Ribeiro MG, Boustany RM.

Hum Mutat. 2003 May;21(5):502-8.

PubMed [citation]
PMID:
12673792

Details of each submission

From Counsyl, SCV000800542.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 29, 2021

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