NM_000527.5(LDLR):c.2206G>A (p.Val736Ile) AND not provided

Clinical significance:Uncertain significance (Last evaluated: May 1, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:

Allele description [Variation Report for NM_000527.5(LDLR):c.2206G>A (p.Val736Ile)]

NM_000527.5(LDLR):c.2206G>A (p.Val736Ile)

LDLR:low density lipoprotein receptor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Genomic location:
Preferred name:
NM_000527.5(LDLR):c.2206G>A (p.Val736Ile)
  • NC_000019.10:g.11123239G>A
  • NG_009060.1:g.38859G>A
  • NM_000527.4:c.2206G>A
  • NM_000527.5:c.2206G>AMANE SELECT
  • NM_001195798.2:c.2206G>A
  • NM_001195799.2:c.2083G>A
  • NM_001195800.2:c.1702G>A
  • NM_001195803.2:c.1672G>A
  • NP_000518.1:p.Val736Ile
  • NP_000518.1:p.Val736Ile
  • NP_001182727.1:p.Val736Ile
  • NP_001182728.1:p.Val695Ile
  • NP_001182729.1:p.Val568Ile
  • NP_001182732.1:p.Val558Ile
  • LRG_274t1:c.2206G>A
  • LRG_274:g.38859G>A
  • LRG_274p1:p.Val736Ile
  • NC_000019.9:g.11233915G>A
Protein change:
dbSNP: rs547268730
NCBI 1000 Genomes Browser:
Molecular consequence:
  • NM_000527.4:c.2206G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_000527.5:c.2206G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195798.2:c.2206G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195799.2:c.2083G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195800.2:c.1702G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195803.2:c.1672G>A - missense variant - [Sequence Ontology: SO:0001583]


MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
SCV001753093GeneDxcriteria provided, single submitter
Uncertain significance
(May 1, 2020)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV001753093.1

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


Not observed at a significant frequency in large population cohorts (Lek et al., 2016); Reported in ClinVar with conflicting interpretations of pathogenicity (ClinVar Variant ID#375835; Landrum et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 27497240)

OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 25, 2021

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