NM_001101648.2(NPC1L1):c.3812C>T (p.Pro1271Leu) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 29, 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:: RCV002987126.1

Allele description [Variation Report for NM_001101648.2(NPC1L1):c.3812C>T (p.Pro1271Leu)]

NM_001101648.2(NPC1L1):c.3812C>T (p.Pro1271Leu)

Gene:

NPC1L1:NPC1 like intracellular cholesterol transporter 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7p13

Genomic location:

Preferred name:

NM_001101648.2(NPC1L1):c.3812C>T (p.Pro1271Leu)

HGVS:

NC_000007.14:g.44513634G>A
NG_013088.1:g.32682C>T
NM_001101648.2:c.3812C>TMANE SELECT
NM_013389.3:c.3893C>T
NP_001095118.1:p.Pro1271Leu
NP_037521.2:p.Pro1298Leu
NC_000007.13:g.44553233G>A
NM_013389.2:c.3893C>T

Protein change:

P1271L

Molecular consequence:

NM_001101648.2:c.3812C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_013389.3:c.3893C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003702573	Ambry Genetics	criteria provided, single submitter (Ambry General Variant Classification Scheme_2022)	Uncertain significance (Mar 29, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003702573

Ambry Genetics

criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)

Uncertain significance
(Mar 29, 2022)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	1	not provided	not provided	1	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV003702573.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	not provided

Description

The c.3893C>T (p.P1298L) alteration is located in exon 20 (coding exon 20) of the NPC1L1 gene. This alteration results from a C to T substitution at nucleotide position 3893, causing the proline (P) at amino acid position 1298 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	1	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Feb 13, 2023

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