ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1793T>A (p.Ile598Asn)

dbSNP: rs879255024
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Familial Hypercholesterolemia Variant Curation Expert Panel RCV000238239 SCV004022461 uncertain significance Hypercholesterolemia, familial, 1 2023-04-28 reviewed by expert panel curation The NM_000527.5(LDLR):c.1793T>A (p.Ile598Asn) variant is classified as Uncertain significance - insufficient evidence for Familial Hypercholesterolemia by applying evidence codes (PM2, PP4 and PS4_supporting) as defined by the ClinGen Familial Hypercholesterolemia Expert Panel LDLR-specific variant curation guidelines ( The supporting evidence is as follows: PM2 - This variant is absent from gnomAD (gnomAD v2.1.1). PS4_supporting - Variant meets PM2 and is identified in 2 unrelated FH index cases with LDL cholesterol >95th percentile for age and sex and/or presence of tendon xantomas from PMID: 9157944 (Pimstone et al., 1997), Netherlands. PP4 - Variant meets PM2 and is identified in at least one case who fufills clinical criteria for FH (see PS4 for details), after alternative causes of high cholesterol were excluded.
LDLR-LOVD, British Heart Foundation RCV000238239 SCV000295660 uncertain significance Hypercholesterolemia, familial, 1 2016-03-25 criteria provided, single submitter literature only
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum RCV000238239 SCV000606517 pathogenic Hypercholesterolemia, familial, 1 no assertion criteria provided research

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