NM_000391.4(TPP1):c.833A>C (p.Gln278Pro) AND Neuronal ceroid lipofuscinosis 2

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Jun 14, 2017
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV000667845.3

Allele description [Variation Report for NM_000391.4(TPP1):c.833A>C (p.Gln278Pro)]

NM_000391.4(TPP1):c.833A>C (p.Gln278Pro)

Gene:

TPP1:tripeptidyl peptidase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.4

Genomic location:

Preferred name:

NM_000391.4(TPP1):c.833A>C (p.Gln278Pro)

HGVS:

NC_000011.10:g.6616714T>G
NG_008653.1:g.7748A>C
NM_000391.4:c.833A>CMANE SELECT
NP_000382.3:p.Gln278Pro
LRG_830t1:c.833A>C
LRG_830:g.7748A>C
LRG_830p1:p.Gln278Pro
NC_000011.9:g.6637945T>G
NM_000391.3:c.833A>C

Protein change:

Q278P

Links:

dbSNP: rs796053439

NCBI 1000 Genomes Browser:

rs796053439

Molecular consequence:

NM_000391.4:c.833A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Neuronal ceroid lipofuscinosis 2
Synonyms:: JANSKY-BIELSCHOWSKY DISEASE NEURONAL CEROID LIPOFUSCINOSIS, LATE INFANTILE; TPP1-Related Neuronal Ceroid-Lipofuscinosis
Identifiers:: MONDO: MONDO:0008769; MedGen: C1876161; Orphanet: 168491; Orphanet: 228349; Orphanet: 79264; OMIM: 204500

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000792354	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Uncertain significance (Jun 14, 2017)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link,
SCV004100900	Department of Developmental Neurology, Medical University of Gdańsk	no classification provided	not provided	unknown	phenotyping only

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000792354

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))

Uncertain significance
(Jun 14, 2017)

unknown

clinical testing

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

Citation Link,

SCV004100900

Department of Developmental Neurology, Medical University of Gdańsk

no classification provided

not provided

unknown

phenotyping only

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	yes	not provided	not provided	not provided	not provided	not provided	phenotyping only
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Identification of novel CLN2 mutations shows Canadian specific NCL2 alleles.

Ju W, Zhong R, Moore S, Moroziewicz D, Currie JR, Parfrey P, Brown WT, Zhong N.

J Med Genet. 2002 Nov;39(11):822-5. No abstract available.

PubMed [citation]

PMID:: 12414822
PMCID:: PMC1735024

Details of each submission

From Counsyl, SCV000792354.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Department of Developmental Neurology, Medical University of Gdańsk, SCV004100900.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1		not provided	not provided	not provided	phenotyping only	not provided

Description

The variant was identified in a compound heterozygous state with another known pathogenic variant in TPP1 (c.622C>T, p.(Arg208*)) in a patient with CLN2 disease detected by metabolic testing.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jun 23, 2024

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