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NM_000271.5(NPC1):c.180+8C>T

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(3);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
4 (Most recent: Oct 4, 2021)
Last evaluated:
Feb 2, 2020
Accession:
VCV000595572.4
Variation ID:
595572
Description:
single nucleotide variant
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NM_000271.5(NPC1):c.180+8C>T

Allele ID
586634
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
18q11.2
Genomic location
18: 23573444 (GRCh38) GRCh38 UCSC
18: 21153408 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000018.10:g.23573444G>A
NC_000018.9:g.21153408G>A
NG_012795.1:g.18174C>T
NM_000271.5:c.180+8C>T MANE Select
Protein change
-
Other names
-
Canonical SPDI
NC_000018.10:23573443:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00011
The Genome Aggregation Database (gnomAD) 0.00010
Links
dbSNP: rs778096289
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 2 criteria provided, multiple submitters, no conflicts Feb 2, 2020 RCV001466251.2
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Oct 8, 2018 RCV000731159.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
NPC1 - - GRCh38
GRCh37
1038 1083

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Dec 26, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000858937.1
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Likely benign
(Oct 08, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001043602.1
Submitted: (Mar 14, 2019)
Evidence details
Likely benign
(Oct 01, 2018)
criteria provided, single submitter
Method: clinical testing
Niemann-Pick disease type C1
Allele origin: germline
Invitae
Accession: SCV001670251.1
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(Feb 02, 2020)
criteria provided, single submitter
Method: clinical testing
Niemann-Pick disease type C1
Allele origin: germline
Al Jalila Children's Genomics Center,Al Jalila Childrens Speciality Hospital
Accession: SCV001984511.1
Submitted: (Oct 04, 2021)
Evidence details

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=NPC1 - - - -

Text-mined citations for rs778096289...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Nov 27, 2021