ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1525A>G (p.Lys509Glu)

dbSNP: rs879254931
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
LDLR-LOVD, British Heart Foundation RCV000238507 SCV000295483 likely pathogenic Hypercholesterolemia, familial, 1 2016-03-25 criteria provided, single submitter literature only
Ambry Genetics RCV004020967 SCV003976995 likely pathogenic Cardiovascular phenotype 2023-06-08 criteria provided, single submitter clinical testing The c.1525A>G (p.K509E) alteration is located in exon 10 (coding exon 10) of the LDLR gene. This alteration results from a A to G substitution at nucleotide position 1525, causing the lysine (K) at amino acid position 509 to be replaced by a glutamic acid (E). This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). This variant has been reported in several individuals with a clinical diagnosis or suspicious of familial hypercholesterolemia (Fouchier, 2001; Pek, 2018; Cui, 2019; Yang, 2019; Lee, 2019; Sustar, 2022). This amino acid position is not well conserved in available vertebrate species. This alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, this alteration is classified as likely pathogenic.
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum RCV000238507 SCV000606450 pathogenic Hypercholesterolemia, familial, 1 no assertion criteria provided research

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