ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.621C>T (p.Gly207=) (rs121908044)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
LDLR-LOVD, British Heart Foundation RCV000003945 SCV000294826 pathogenic Familial hypercholesterolemia 1 2016-03-25 criteria provided, single submitter literature only
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies,APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix RCV000003945 SCV000503190 likely pathogenic Familial hypercholesterolemia 1 2016-12-16 criteria provided, single submitter clinical testing subject mutated among 2600 FH index cases screened = 5, family member = 1
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille RCV000003945 SCV000583711 pathogenic Familial hypercholesterolemia 1 2017-03-30 criteria provided, single submitter clinical testing
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge RCV000003945 SCV000599336 likely pathogenic Familial hypercholesterolemia 1 2016-03-01 criteria provided, single submitter curation
Iberoamerican FH Network RCV000003945 SCV000748131 likely pathogenic Familial hypercholesterolemia 1 2016-03-01 criteria provided, single submitter research
Invitae RCV001389663 SCV001591108 pathogenic Familial hypercholesterolemia 2020-03-11 criteria provided, single submitter clinical testing This sequence change affects codon 207 of the LDLR mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the LDLR protein. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with familial hypercholesterolemia (PMID: 18400033, 28104544, 30293936). ClinVar contains an entry for this variant (Variation ID: 3747). Experimental studies have shown that this variant disrupts mRNA splicing (PMID: 18400033). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000003945 SCV000024110 pathogenic Familial hypercholesterolemia 1 2008-06-01 no assertion criteria provided literature only
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum RCV000003945 SCV000606170 pathogenic Familial hypercholesterolemia 1 no assertion criteria provided research

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