ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.91G>A (p.Glu31Lys) (rs776421777)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
LDLR-LOVD, British Heart Foundation RCV000237765 SCV000294459 likely pathogenic Familial hypercholesterolemia 1 2016-03-25 criteria provided, single submitter literature only
Color Health, Inc RCV000775021 SCV000909118 uncertain significance Familial hypercholesterolemia 2019-04-02 criteria provided, single submitter clinical testing
Invitae RCV000775021 SCV001211234 uncertain significance Familial hypercholesterolemia 2019-01-30 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 31 of the LDLR protein (p.Glu31Lys). The glutamic acid residue is moderately conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is present in population databases (rs776421777, ExAC 0.002%). This variant has been observed in an individual with clinical features of familial hypercholesterolemia (PMID: 20145306). ClinVar contains an entry for this variant (Variation ID: 251013). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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.
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum RCV000237765 SCV000606012 pathogenic Familial hypercholesterolemia 1 no assertion criteria provided research

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