ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1808A>G (p.Lys603Arg)

dbSNP: rs1302327551
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003581677 SCV004305574 uncertain significance Familial hypercholesterolemia 2023-06-02 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt LDLR protein function. ClinVar contains an entry for this variant (Variation ID: 440662). This variant has not been reported in the literature in individuals affected with LDLR-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 603 of the LDLR protein (p.Lys603Arg).
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum RCV000508798 SCV000606519 benign Hypercholesterolemia, familial, 1 no assertion criteria provided research

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