NM_000391.4(TPP1):c.1340G>A (p.Arg447His) AND not provided

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 18, 2015
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:: RCV000189790.2

Allele description

NM_000391.4(TPP1):c.1340G>A (p.Arg447His)

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.1340G>A (p.Arg447His)

Other names:

5457G>A; p.R447H:CGT>CAT

HGVS:

NC_000011.10:g.6615256C>T
NG_008653.1:g.9206G>A
NM_000391.4:c.1340G>AMANE SELECT
NP_000382.3:p.Arg447His
LRG_830t1:c.1340G>A
LRG_830:g.9206G>A
LRG_830p1:p.Arg447His
NC_000011.9:g.6636487C>T
NM_000391.3:c.1340G>A
O14773:p.Arg447His

Protein change:

R447H; ARG447HIS

Links:

UniProtKB: O14773#VAR_005645; UniProtKB/Swiss-Prot: VAR_005645; OMIM: 607998.0005; dbSNP: rs119455956

NCBI 1000 Genomes Browser:

rs119455956

Molecular consequence:

NM_000391.4:c.1340G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000243438	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (Aug 18, 2015)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000243438

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Pathogenic
(Aug 18, 2015)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000243438.14

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

Description

p.Arg447His (CGT>CAT): c.1340 G>A in exon 11 of the TPP1 gene (NM_000391.3)The Arg447His missense mutation has been observed in multiple patients with neuronal ceroid-lipofuscuinosis 2 (CLN2) who harbored a second disease causing mutation on the other chromosome (Sleat et al., 1999). Although this mutation is a conservative substitution of one positively charged polar amino acid for another, it alters a conserved region of the TPP1 protein and other mutations at nearby codons have been reported in association with CLN2. In addition, in silico analysis predicts this variant is probably damaging to the protein structure/function. Therefore, the Arg477His is considered a disease-causing mutation in the TPP1 gene. The variant is found in EPILEPSY panel(s).

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

Last Updated: Apr 13, 2021

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