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

Clinical significance:Pathogenic (Last evaluated: Nov 2, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000719063.1

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]
Observations:
1

Condition(s)

Name:
Seizures
Identifiers:
MedGen: C0036572; Human Phenotype Ontology: HP:0001250

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000849927Ambry Geneticscriteria provided, single submitter
Pathogenic
(Nov 2, 2016)
germlineclinical testing

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

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not 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

Details of each submission

From Ambry Genetics, SCV000849927.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

The p.E72* pathogenic mutation (also known as c.214G>T), located in coding exon 3 of the CLN6 gene, results from a G to T substitution at nucleotide position 214. This changes the amino acid from a glutamic acid to a stop codon within coding exon 3. This mutation was first reported in the homozgyous state (referred to as G317T) in a child from Costa Rica with variant late infantile neuronal ceroid lipofuscinoses (Gao H et al. Am. J. Hum. Genet., 2002 Feb;70:324-35). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Nov 27, 2021

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