ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.601G>A (p.Glu201Lys)

dbSNP: rs879254589
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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 RCV000237889 SCV000294815 likely pathogenic Hypercholesterolemia, familial, 1 2016-03-25 criteria provided, single submitter research
Iberoamerican FH Network RCV000237889 SCV000748167 likely pathogenic Hypercholesterolemia, familial, 1 2016-03-01 criteria provided, single submitter research
GeneDx RCV001840429 SCV002099589 likely pathogenic not provided 2021-12-10 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Also known as p.Glu180Lys; This variant is associated with the following publications: (PMID: 21418584, 20019594, 32770674)

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