ClinVar Miner

Submissions for variant NM_000527.4(LDLR):c.12G>A (p.Trp4Ter) (rs756039188)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000791411 SCV000285010 pathogenic Familial hypercholesterolemias 2018-12-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp4*) in the LDLR gene. It is expected to result in an absent or disrupted protein product. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has been observed in individuals affected with familial hypercholesterolemia (PMID: 7903864, 16314194, 20428891, 21376320, 21868016). ClinVar contains an entry for this variant (Variation ID: 237860). Loss-of-function variants in LDLR are known to be pathogenic (PMID: 20809525). For these reasons, this variant has been classified as Pathogenic.
LDLR-LOVD, British Heart Foundation RCV000227275 SCV000294414 pathogenic Familial hypercholesterolemia 2016-03-25 criteria provided, single submitter literature only
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille RCV000227275 SCV000583622 pathogenic Familial hypercholesterolemia 2017-03-30 criteria provided, single submitter clinical testing ACMG Guidelines: Pathogenic (i)
Fundacion Hipercolesterolemia Familiar RCV000227275 SCV000607403 pathogenic Familial hypercholesterolemia 2016-03-01 criteria provided, single submitter research
Iberoamerican FH Network RCV000227275 SCV000748035 pathogenic Familial hypercholesterolemia 2016-03-01 criteria provided, single submitter research

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