U.S. flag

An official website of the United States government

NM_001909.5(CTSD):c.446G>T (p.Gly149Val) AND Neuronal ceroid lipofuscinosis 10

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 11, 2014
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:
RCV000190882.4

Allele description [Variation Report for NM_001909.5(CTSD):c.446G>T (p.Gly149Val)]

NM_001909.5(CTSD):c.446G>T (p.Gly149Val)

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.446G>T (p.Gly149Val)
HGVS:
  • NC_000011.10:g.1758994C>A
  • NG_008655.1:g.9999G>T
  • NM_001909.5:c.446G>TMANE SELECT
  • NP_001900.1:p.Gly149Val
  • NC_000011.9:g.1780224C>A
Protein change:
G149V; GLY149VAL
Links:
OMIM: 116840.0004; dbSNP: rs797045137
NCBI 1000 Genomes Browser:
rs797045137
Molecular consequence:
  • NM_001909.5:c.446G>T - 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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000245756OMIM
no assertion criteria provided
Pathogenic
(Nov 11, 2014) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Cathepsin D deficiency causes juvenile-onset ataxia and distinctive muscle pathology.

Hersheson J, Burke D, Clayton R, Anderson G, Jacques TS, Mills P, Wood NW, Gissen P, Clayton P, Fearnley J, Mole SE, Houlden H.

Neurology. 2014 Nov 11;83(20):1873-5. doi: 10.1212/WNL.0000000000000981. Epub 2014 Oct 8. No abstract available.

PubMed [citation]
PMID:
25298308
PMCID:
PMC4240432

Details of each submission

From OMIM, SCV000245756.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In 4 sibs, born of consanguineous Somali parents, with neuronal ceroid lipofuscinosis-10 (CLN10; 610127), Hersheson et al. (2014) identified a homozygous mutation in exon 4 of the CTSD gene, resulting in a gly149-to-val (G149V) substitution at a highly conserved residue. The mutation, which was found by a combination of homozygosity mapping and exome sequencing, segregated with the disorder in the family. Patient fibroblasts showed significantly decreased cathepsin D activity (11% of control values). The patients presented at around age 15 years with cerebellar ataxia and retinitis pigmentosa, which progressed to significant motor impairment and cognitive decline. Two patients died in their thirties.

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

Last Updated: Jun 24, 2022