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NM_000527.5(LDLR):c.1529C>T (p.Thr510Met) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 10, 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:
RCV002401935.2

Allele description [Variation Report for NM_000527.5(LDLR):c.1529C>T (p.Thr510Met)]

NM_000527.5(LDLR):c.1529C>T (p.Thr510Met)

Gene:
LDLR:low density lipoprotein receptor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19p13.2
Genomic location:
Preferred name:
NM_000527.5(LDLR):c.1529C>T (p.Thr510Met)
Other names:
NM_000527.5(LDLR):c.1529C>T
HGVS:
  • NC_000019.10:g.11113705C>T
  • NG_009060.1:g.29325C>T
  • NM_000527.5:c.1529C>TMANE SELECT
  • NM_001195798.2:c.1529C>T
  • NM_001195799.2:c.1406C>T
  • NM_001195800.2:c.1025C>T
  • NM_001195803.2:c.1148C>T
  • NP_000518.1:p.Thr510Met
  • NP_000518.1:p.Thr510Met
  • NP_001182727.1:p.Thr510Met
  • NP_001182728.1:p.Thr469Met
  • NP_001182729.1:p.Thr342Met
  • NP_001182732.1:p.Thr383Met
  • LRG_274t1:c.1529C>T
  • LRG_274:g.29325C>T
  • NC_000019.9:g.11224381C>T
  • NM_000527.4(LDLR):c.1529C>T
  • NM_000527.4:c.1529C>T
  • c.1529C>T
Protein change:
T342M
Links:
LDLR-LOVD, British Heart Foundation: LDLR_000900; dbSNP: rs755154048
NCBI 1000 Genomes Browser:
rs755154048
Molecular consequence:
  • NM_000527.5:c.1529C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195798.2:c.1529C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195799.2:c.1406C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195800.2:c.1025C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195803.2:c.1148C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002708239Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jun 10, 2022) 		germlineclinical testing

PubMed (7)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Cardiovascular risk factors and testing of relatives amongst patients with familial hyperlipidaemia one decade after a clinical trial.

Tonstad S, Hjermann I.

J Intern Med. 2000 Aug;248(2):111-8.

PubMed [citation]
PMID:
10947889

Application of molecular genetics for diagnosing familial hypercholesterolemia in Norway: results from a family-based screening program.

Leren TP, Manshaus T, Skovholt U, Skodje T, Nossen IE, Teie C, Sørensen S, Bakken KS.

Semin Vasc Med. 2004 Feb;4(1):75-85. Review.

PubMed [citation]
PMID:
15199436
See all PubMed Citations (7)

Details of each submission

From Ambry Genetics, SCV002708239.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (7)

Description

The p.T510M variant (also known as c.1529C>T), located in coding exon 10 of the LDLR gene, results from a C to T substitution at nucleotide position 1529. The threonine at codon 510 is replaced by methionine, an amino acid with similar properties. This alteration, which is also known as p.T489M, has been reported in several familial hypercholesterolemia (FH) cohorts; however, clinical details were limited (Tonstad S et al. J Intern Med, 2000 Aug;248:111-8; Brusgaard K et al. Clin Genet, 2006 Mar;69:277-83; Tichý L et al. Atherosclerosis, 2012 Aug;223:401-8; Lamiquiz-Moneo I et al. Rev Esp Cardiol (Engl Ed), 2021 Aug;74:664-673; Rieck L et al. Clin Genet, 2020 11;98:457-467). This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Apr 13, 2025