U.S. flag

An official website of the United States government

NM_000391.4(TPP1):c.481C>T (p.Gln161Ter) AND Neuronal ceroid lipofuscinosis

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
May 11, 2022
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:
RCV002265936.1

Allele description [Variation Report for NM_000391.4(TPP1):c.481C>T (p.Gln161Ter)]

NM_000391.4(TPP1):c.481C>T (p.Gln161Ter)

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.481C>T (p.Gln161Ter)
HGVS:
  • NC_000011.10:g.6617328G>A
  • NG_008653.1:g.7134C>T
  • NM_000391.4:c.481C>TMANE SELECT
  • NP_000382.3:p.Gln161Ter
  • LRG_830t1:c.481C>T
  • LRG_830:g.7134C>T
  • LRG_830p1:p.Gln161Ter
  • NC_000011.9:g.6638559G>A
  • NM_000391.3:c.481C>T
Protein change:
Q161*
Links:
dbSNP: rs764256845
NCBI 1000 Genomes Browser:
rs764256845
Molecular consequence:
  • NM_000391.4:c.481C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Neuronal ceroid lipofuscinosis
Synonyms:
Ceroid storage disease
Identifiers:
MONDO: MONDO:0016295; MedGen: C0027877; Orphanet: 79263; OMIM: PS256730

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002548006Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)
Likely pathogenic
(May 11, 2022)
germlineclinical testing

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

Citation Link

Summary from all submissions

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

Citations

PubMed

Mutation update: Review of TPP1 gene variants associated with neuronal ceroid lipofuscinosis CLN2 disease.

Gardner E, Bailey M, Schulz A, Aristorena M, Miller N, Mole SE.

Hum Mutat. 2019 Nov;40(11):1924-1938. doi: 10.1002/humu.23860. Epub 2019 Jul 26.

PubMed [citation]
PMID:
31283065
PMCID:
PMC6851559

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV002548006.1

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

Description

Variant summary: TPP1 c.481C>T (p.Gln161X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant allele was found at a frequency of 1.2e-05 in 251446 control chromosomes (gnomAD). c.481C>T has been reported in the literature in individual(s) affected with Neuronal Ceroid-Lipofuscinosis (Batten Disease) (Gardner_2019). To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation, and classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as likely pathogenic.

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

Last Updated: Sep 29, 2024