NM_001909.5(CTSD):c.1149G>C (p.Trp383Cys) AND Neuronal ceroid lipofuscinosis 10

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jun 1, 2006
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000019135.26

Allele description [Variation Report for NM_001909.5(CTSD):c.1149G>C (p.Trp383Cys)]

NM_001909.5(CTSD):c.1149G>C (p.Trp383Cys)

Gene:

CTSD:cathepsin D [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.5

Genomic location:

Preferred name:

NM_001909.5(CTSD):c.1149G>C (p.Trp383Cys)

HGVS:

NC_000011.10:g.1753593C>G
NG_008655.1:g.15400G>C
NM_001909.5:c.1149G>CMANE SELECT
NP_001900.1:p.Trp383Cys
NC_000011.9:g.1774823C>G
P07339:p.Trp383Cys

Protein change:

W383C; TRP383CYS

Links:

UniProtKB: P07339#VAR_029363; OMIM: 116840.0002; dbSNP: rs121912790

NCBI 1000 Genomes Browser:

rs121912790

Molecular consequence:

NM_001909.5:c.1149G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Neuronal ceroid lipofuscinosis 10 (CLN10)
Synonyms:: Ceroid lipofuscinosis neuronal Cathepsin D-deficient; Neuronal ceroid lipofuscinosis due to Cathepsin D deficiency; CTSD-Related Neuronal Ceroid-Lipofuscinosis
Identifiers:: MONDO: MONDO:0012414; MedGen: C1864669; OMIM: 610127

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000039423	OMIM	no assertion criteria provided	Pathogenic (Jun 1, 2006)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000039423

OMIM

no assertion criteria provided

Pathogenic
(Jun 1, 2006)

germline

literature only

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Cathepsin D deficiency is associated with a human neurodegenerative disorder.

Steinfeld R, Reinhardt K, Schreiber K, Hillebrand M, Kraetzner R, Bruck W, Saftig P, Gartner J.

Am J Hum Genet. 2006 Jun;78(6):988-98. Epub 2006 Mar 29.

PubMed [citation]

PMID:: 16685649
PMCID:: PMC1474096

Details of each submission

From OMIM, SCV000039423.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

For discussion of the trp383-to-cys (W383C) mutation in the CTSD gene that was found in compound heterozygous state in a patient with cathepsin D-deficient neuronal ceroid lipofuscinosis (CLN10; 610127) by Steinfeld et al. (2006), see 116840.0001.

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

Last Updated: Jun 24, 2022

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