ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1200C>A (p.Tyr400Ter)

dbSNP: rs879254827
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
LDLR-LOVD, British Heart Foundation RCV000237899 SCV000295292 pathogenic Hypercholesterolemia, familial, 1 2016-03-25 criteria provided, single submitter literature only
Fundacion Hipercolesterolemia Familiar RCV000237899 SCV000607573 pathogenic Hypercholesterolemia, familial, 1 2016-03-01 criteria provided, single submitter research
Color Diagnostics, LLC DBA Color Health RCV000775059 SCV000909160 pathogenic Familial hypercholesterolemia 2022-11-16 criteria provided, single submitter clinical testing This variant changes 1 nucleotide in exon 9 of the EGF precursor homology domain of the LDLR gene, creating a premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. This variant has been reported in individuals affected with familial hypercholesterolemia (PMID: 15241806, 16250003, 18096825). It has also been reported in an individual suspected to be affected with familial hypercholesterolemia (PMID: 34037665). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of LDLR function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic.
Invitae RCV000775059 SCV000941734 pathogenic Familial hypercholesterolemia 2023-09-18 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 251728). This variant is also known as p.Y379X. This premature translational stop signal has been observed in individuals with familial hypercholesterolemia (PMID: 15241806, 16250003, 18096825; Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Tyr400*) in the LDLR gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in LDLR are known to be pathogenic (PMID: 20809525, 28645073).
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum RCV000237899 SCV000606355 pathogenic Hypercholesterolemia, familial, 1 no assertion criteria provided research

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