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NM_000271.5(NPC1):c.180G>T (p.Gln60His) AND NPC1-related disorder

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 21, 2024
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:
RCV004748920.1

Allele description [Variation Report for NM_000271.5(NPC1):c.180G>T (p.Gln60His)]

NM_000271.5(NPC1):c.180G>T (p.Gln60His)

Gene:
NPC1:NPC intracellular cholesterol transporter 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
18q11.2
Genomic location:
Preferred name:
NM_000271.5(NPC1):c.180G>T (p.Gln60His)
Other names:
p.Gln60His
HGVS:
  • NC_000018.10:g.23573452C>A
  • NG_012795.1:g.18166G>T
  • NM_000271.5:c.180G>TMANE SELECT
  • NP_000262.2:p.Gln60His
  • NC_000018.9:g.21153416C>A
  • NM_000271.4:c.180G>T
Protein change:
Q60H
Links:
dbSNP: rs145666943
NCBI 1000 Genomes Browser:
rs145666943
Molecular consequence:
  • NM_000271.5:c.180G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
NPC1-related disorder
Synonyms:
NPC1-related condition
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005362839PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Uncertain significance
(Jun 21, 2024) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV005362839.1

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

Description

The NPC1 c.180G>T variant is predicted to result in the amino acid substitution p.Gln60His. This variant was reported in an individual with Schizophrenia (Sriretnakumar et al. 2019. PubMed ID: 30556376). This variant is reported in 0.060% of alleles in individuals of European (Finnish) descent in gnomAD. Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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

Last Updated: Apr 28, 2025