ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.2413G>C (p.Gly805Arg)

dbSNP: rs879255204
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003581678 SCV004297886 pathogenic Familial hypercholesterolemia 2023-08-08 criteria provided, single submitter clinical testing This missense change has been observed in individual(s) with familial hypercholesterolemia (PMID: 15199436, 24918045, 33740630). It has also been observed to segregate with disease in related individuals. For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects LDLR function (PMID: 24918045). 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 expected to disrupt LDLR protein function. ClinVar contains an entry for this variant (Variation ID: 440694). This variant is also known as G784R. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 805 of the LDLR protein (p.Gly805Arg).
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum RCV000508758 SCV000606647 pathogenic Hypercholesterolemia, familial, 1 no assertion criteria provided research

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