ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1326C>G (p.Tyr442Ter)

dbSNP: rs879254865
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
LDLR-LOVD, British Heart Foundation RCV000237269 SCV000295367 pathogenic Hypercholesterolemia, familial, 1 2016-03-25 criteria provided, single submitter literature only
Fundacion Hipercolesterolemia Familiar RCV000237269 SCV000607585 pathogenic Hypercholesterolemia, familial, 1 2016-03-01 criteria provided, single submitter research
Invitae RCV001220026 SCV001391997 pathogenic Familial hypercholesterolemia 2022-05-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr442*) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with familial hypercholesterolemia (PMID: 15241806). This variant is also known as p.Y421X. ClinVar contains an entry for this variant (Variation ID: 251788). For these reasons, this variant has been classified as Pathogenic.

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