ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.514G>A (p.Asp172Asn) (rs879254554)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
LDLR-LOVD, British Heart Foundation RCV000238587 SCV000294756 likely pathogenic Familial hypercholesterolemia 1 2016-03-25 criteria provided, single submitter literature only
Robarts Research Institute,Western University RCV000238587 SCV000484687 likely pathogenic Familial hypercholesterolemia 1 criteria provided, single submitter clinical testing
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies,APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix RCV000238587 SCV000503172 likely pathogenic Familial hypercholesterolemia 1 2016-12-16 criteria provided, single submitter clinical testing subjects mutated among 2600 FH index cases screened = 2 / Software predictions: Conflicting
Fundacion Hipercolesterolemia Familiar RCV000238587 SCV000607467 pathogenic Familial hypercholesterolemia 1 2016-03-01 criteria provided, single submitter research
Invitae RCV001385842 SCV001585835 pathogenic Familial hypercholesterolemia 2020-10-28 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with asparagine at codon 172 of the LDLR protein (p.Asp172Asn). The aspartic acid residue is highly conserved and there is a small physicochemical difference between aspartic acid and asparagine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with familial hypercholesterolemia (PMID: 10532689, 16806138). It has also been observed to segregate with disease in related individuals. This variant is also known as D151N. ClinVar contains an entry for this variant (Variation ID: 251266). Experimental studies have shown that this variant affects LDLR protein function (PMID: 25545329). This variant disrupts the p.Asp172 (also known as D151) amino acid residue in LDLR. Other variant(s) that disrupt this residue have been observed in individuals with LDLR-related conditions (PMID: 10882754, 11194025, 20538126, 28028493), which suggests that this may be a clinically significant amino acid residue. For these reasons, this variant has been classified as Pathogenic.
Laboratory of molecular diagnosis of dyslipidemias, Università egli studi di Napoli Federico II RCV000238587 SCV001653595 likely pathogenic Familial hypercholesterolemia 1 2021-05-24 criteria provided, single submitter clinical testing Reduced binding activity & LDL uptake versus WT
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum RCV000238587 SCV000606142 pathogenic Familial hypercholesterolemia 1 no assertion criteria provided research

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