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NM_000271.5(NPC1):c.3243_3755-94del AND Niemann-Pick disease, type C

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Feb 2, 2018
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:
RCV000781672.1

Allele description [Variation Report for NM_000271.5(NPC1):c.3243_3755-94del]

NM_000271.5(NPC1):c.3243_3755-94del

Gene:
NPC1:NPC intracellular cholesterol transporter 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
18q11.2
Genomic location:
Preferred name:
NM_000271.5(NPC1):c.3243_3755-94del
HGVS:
  • NC_000018.10:g.23532378_23536675del
  • NG_012795.1:g.54943_59240del
  • NG_033119.1:g.33909_35338del
  • NM_000271.5:c.3243_3755-94delMANE SELECT
  • NC_000018.9:g.21112342_21116639del
  • NM_000271.4:c.3243_3755-94del
Molecular consequence:
  • NM_000271.5:c.3243_3755-94del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_000271.5:c.3243_3755-94del - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:
Niemann-Pick disease, type C (NPC)
Identifiers:
MONDO: MONDO:0018982; MedGen: C0220756

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000919896Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Likely pathogenic
(Feb 2, 2018) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000919896.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Variant summary: NPC1 c.3243_3755-94del is a large deletion spanning exons 21-24 in the NPC1 gene, which results in a frameshift change in the NPC1 gene, a known mechanism of disease. The frequency of this variant in the general population could not be determined as the technology used for large population databases (ExAC, gnomAD, ESP, 1000G) cannot detect variants of this type. To our knowledge, no occurrence of c.3243_3755-94del in individuals affected with Niemann-Pick Disease Type C and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Based on the evidence outlined above, the variant was classified as likely pathogenic.

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

Last Updated: Mar 30, 2024