NC_000011.9:g.(?_1774733)_(1785089_?)del AND Neuronal ceroid lipofuscinosis

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

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Apr 10, 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:: RCV003107548.2

Allele description

NC_000011.9:g.(?_1774733)_(1785089_?)del

Gene:: CTSD:cathepsin D [Gene - OMIM - HGNC]
Variant type:: Deletion
Cytogenetic location:: 11p15.5
Genomic location:: Chr11: 1774733 - 1785089 (on Assembly GRCh37)
Preferred name:: NC_000011.9:g.(?_1774733)_(1785089_?)del
HGVS:: NC_000011.9:g.(?_1774733)_(1785089_?)del
This HGVS expression did not pass validation

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003794533	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Apr 10, 2022)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 16670177, 26059544, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003794533

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Apr 10, 2022)

germline

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

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

Cathepsin D deficiency underlies congenital human neuronal ceroid-lipofuscinosis.

Siintola E, Partanen S, Strömme P, Haapanen A, Haltia M, Maehlen J, Lehesjoki AE, Tyynelä J.

Brain. 2006 Jun;129(Pt 6):1438-45. Epub 2006 May 2.

PubMed [citation]

PMID:: 16670177

Congenital CLN disease in two siblings.

Meyer S, Yilmaz U, Kim YJ, Steinfeld R, Meyberg-Solomayer G, Oehl-Jaschkowitz B, Tzschach A, Gortner L, Igel J, Schofer O.

Wien Med Wochenschr. 2015 May;165(9-10):210-3. doi: 10.1007/s10354-015-0359-4. Epub 2015 Jun 10.

PubMed [citation]

PMID:: 26059544

See all PubMed Citations (3)

Details of each submission

From Invitae, SCV003794533.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

A gross deletion of the genomic region encompassing the full coding sequence of the CTSD gene has been identified. Loss-of-function variants in CTSD are known to be pathogenic (PMID: 16670177, 26059544). The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. This variant has not been reported in the literature in individuals affected with CTSD-related conditions. For these reasons, this variant has been classified as Pathogenic.

#	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: Feb 18, 2023

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