NM_017882.3(CLN6):c.214G>T (p.Glu72Ter) AND Neuronal ceroid lipofuscinosis 6

Clinical significance:Pathogenic (Last evaluated: Mar 12, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000004292.9

Allele description [Variation Report for NM_017882.3(CLN6):c.214G>T (p.Glu72Ter)]

NM_017882.3(CLN6):c.214G>T (p.Glu72Ter)

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.214G>T (p.Glu72Ter)
HGVS:
  • NC_000015.10:g.68214373C>A
  • NG_008764.2:g.47839G>T
  • NM_017882.3:c.214G>TMANE SELECT
  • NP_060352.1:p.Glu72Ter
  • LRG_832t1:c.214G>T
  • LRG_832:g.47839G>T
  • LRG_832p1:p.Glu72Ter
  • NC_000015.9:g.68506711C>A
  • NM_017882.1:c.214G>T
  • NM_017882.2:c.214G>T
Protein change:
E72*; GLU72TER
Links:
OMIM: 606725.0001; dbSNP: rs104894483
NCBI 1000 Genomes Browser:
rs104894483
Molecular consequence:
  • NM_017882.3:c.214G>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Neuronal ceroid lipofuscinosis 6 (CLN6A)
Synonyms:
Neuronal ceroid lipofuscinosis, Gypsy/Indian early juvenile variant; CEROID LIPOFUSCINOSIS, NEURONAL, 6A; 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
SCV000024458OMIMno assertion criteria providedPathogenic
(Feb 1, 2002)
germlineliterature only

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

SCV000086972GeneReviewsno assertion criteria providedpathologic
(Aug 1, 2013)
not providedcuration

SCV000798501Counsylcriteria provided, single submitter
Pathogenic
(Mar 12, 2018)
unknownclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only
not providednot providednot providednot providednot providednot providednot providednot providedcuration
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse.

Gao H, Boustany RM, Espinola JA, Cotman SL, Srinidhi L, Antonellis KA, Gillis T, Qin X, Liu S, Donahue LR, Bronson RT, Faust JR, Stout D, Haines JL, Lerner TJ, MacDonald ME.

Am J Hum Genet. 2002 Feb;70(2):324-35. Epub 2001 Dec 21.

PubMed [citation]
PMID:
11791207
PMCID:
PMC384912

Distinct early molecular responses to mutations causing vLINCL and JNCL presage ATP synthase subunit C accumulation in cerebellar cells.

Cao Y, Staropoli JF, Biswas S, Espinola JA, MacDonald ME, Lee JM, Cotman SL.

PLoS One. 2011 Feb 17;6(2):e17118. doi: 10.1371/journal.pone.0017118.

PubMed [citation]
PMID:
21359198
PMCID:
PMC3040763
See all PubMed Citations (4)

Details of each submission

From OMIM, SCV000024458.4

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

Description

In a Costa Rican family with variant late infantile neuronal ceroid lipofuscinosis (CLN6A; 601780), Gao et al. (2002) identified a G-to-T transversion at nucleotide 317 in exon 3 of the CLN6 gene, introducing a stop codon (E72X). The mutation was present in homozygous state. The same mutation was demonstrated in 6 Costa Rican kindreds by Wheeler et al. (2002).

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

From GeneReviews, SCV000086972.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

Converted during submission to Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot providednot providednot providedAssert pathogenicitynot providednot providednot providednot provided

From Counsyl, SCV000798501.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 4, 2021

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