ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.373C>A (p.Gln125Lys)

dbSNP: rs875989899
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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 RCV000211665 SCV000294668 likely benign Hypercholesterolemia, familial, 1 2016-03-25 criteria provided, single submitter literature only
GeneDx RCV002517449 SCV003195013 uncertain significance not provided 2022-07-22 criteria provided, single submitter clinical testing Identified in a cohort of individuals with familial hypercholesterolemia, although zygosity and patient specific clinical information were not provided (Hooper et al., 2012); In silico analysis supports that this missense variant does not alter protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 30583242, 34906454, 22883975)
Cardiovascular Genetics Laboratory, PathWest Laboratory Medicine WA - Fiona Stanley Hospital RCV000211665 SCV000268560 uncertain significance Hypercholesterolemia, familial, 1 2008-07-07 no assertion criteria provided clinical testing

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