NM_015627.3(LDLRAP1):c.605C>A (p.Ser202Tyr) AND Familial hypercholesterolemia

Germline classification:: Likely benign (2 submissions)
Last evaluated:: Aug 6, 2025
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:: RCV001275174.2

Allele description [Variation Report for NM_015627.3(LDLRAP1):c.605C>A (p.Ser202Tyr)]

NM_015627.3(LDLRAP1):c.605C>A (p.Ser202Tyr)

Gene:

LDLRAP1:low density lipoprotein receptor adaptor protein 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p36.11

Genomic location:

Preferred name:

NM_015627.3(LDLRAP1):c.605C>A (p.Ser202Tyr)

Other names:

P202H

HGVS:

NC_000001.11:g.25563142C>A
NG_008932.1:g.24558C>A
NM_015627.3:c.605C>AMANE SELECT
NP_056442.2:p.Ser202Tyr
NP_056442.2:p.Ser202Tyr
LRG_276t1:c.605C>A
LRG_276:g.24558C>A
LRG_276p1:p.Ser202Tyr
NC_000001.10:g.25889633C>A
NM_015627.2:c.605C>A
p.(Ser202Tyr)

Protein change:

S202Y; PRO202HIS

Links:

OMIM: 605747.0004; dbSNP: rs121908326

Molecular consequence:

NM_015627.3:c.605C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Familial hypercholesterolemia
Synonyms:: Familial hypercholesterolemias; Familial hypercholesterolaemia
Identifiers:: MONDO: MONDO:0005439; MedGen: C0020445; OMIM: PS143890

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001460019	Natera, Inc.	no assertion criteria provided	Uncertain significance (Jan 11, 2020)	germline	clinical testing
SCV007131332	Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service	criteria provided, single submitter (ACGS Best Practice Guidelines for Variant Classification in Rare Disease 2020)	Likely benign (Aug 6, 2025)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001460019

Natera, Inc.

no assertion criteria provided

Uncertain significance
(Jan 11, 2020)

germline

clinical testing

SCV007131332

Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service

criteria provided, single submitter

(ACGS Best Practice Guidelines for Variant Classification in Rare Disease 2020)

Likely benign
(Aug 6, 2025)

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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Natera, Inc., SCV001460019.1

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

#	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

From Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service, SCV007131332.1

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

Description

BS1_Strong,BP4

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

Last Updated: Jul 27, 2026

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