NM_000391.4(TPP1):c.1058C>A (p.Thr353Asn) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 9, 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:: RCV002313067.9

Allele description [Variation Report for NM_000391.4(TPP1):c.1058C>A (p.Thr353Asn)]

NM_000391.4(TPP1):c.1058C>A (p.Thr353Asn)

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.1058C>A (p.Thr353Asn)

HGVS:

NC_000011.10:g.6616332G>T
NG_008653.1:g.8130C>A
NM_000391.4:c.1058C>AMANE SELECT
NP_000382.3:p.Thr353Asn
LRG_830t1:c.1058C>A
LRG_830:g.8130C>A
LRG_830p1:p.Thr353Asn
NC_000011.9:g.6637563G>T
NM_000391.3:c.1058C>A

Protein change:

T353N

Links:

dbSNP: rs145966505

NCBI 1000 Genomes Browser:

rs145966505

Molecular consequence:

NM_000391.4:c.1058C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000847692	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Mar 9, 2022)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 31283065, 33356800 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000847692

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Mar 9, 2022)

germline

clinical testing

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

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical 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

Cerliponase Alfa for the Treatment of Atypical Phenotypes of CLN2 Disease: A Retrospective Case Series.

Wibbeler E, Wang R, Reyes EL, Specchio N, Gissen P, Guelbert N, Nickel M, Schwering C, Lehwald L, Trivisano M, Lee L, Amato G, Cohen-Pfeffer J, Shediac R, Leal-Pardinas F, Schulz A.

J Child Neurol. 2021 May;36(6):468-474. doi: 10.1177/0883073820977997. Epub 2020 Dec 23.

PubMed [citation]

PMID:: 33356800
PMCID:: PMC8027928

Details of each submission

From Ambry Genetics, SCV000847692.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

Description

The c.1058C>A (p.T353N) alteration is located in exon 8 (coding exon 8) of the TPP1 gene. This alteration results from a C to A substitution at nucleotide position 1058, causing the threonine (T) at amino acid position 353 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Oct 13, 2024

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