ClinVar Miner

Submissions for variant NM_000527.4(LDLR):c.-121T>C (rs777716188)

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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 RCV000211691 SCV000294394 likely pathogenic Familial hypercholesterolemia 1 2016-03-25 criteria provided, single submitter literature only
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge RCV000211691 SCV000599303 likely pathogenic Familial hypercholesterolemia 1 2016-03-01 criteria provided, single submitter curation
Color RCV000775225 SCV000909470 uncertain significance Familial hypercholesterolemia 2018-04-12 criteria provided, single submitter clinical testing Variant of Uncertain Significance based on current evidence: This LDLR variant (c.-121T>C) causes a single nucleotide change in the promoter region (between the TATA and SP1 binding motifs) of the LDLR gene. Experimental studies in vitro of LDLR gene expression have shown a moderate decrease in LDLR gene expression (PMID: 25248394) but it is unclear if this would be reproduced in vivo. This variant has been reported in at least 2 individuals suspected of having familial hypercholesterolemia (PMID: 20236128, 22883975, 23669246). The genome region of this variant is not well covered in population databases and thus the frequency of this variant in the general population is unknown. Available evidence is insufficient to determine the pathogenicity of this variant conclusively.
Cardiovascular Genetics Laboratory,PathWest Laboratory Medicine WA - Fiona Stanley Hospital RCV000211691 SCV000268532 uncertain significance Familial hypercholesterolemia 1 2011-06-10 no assertion criteria provided clinical testing

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