ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.648dup (p.Asp217Ter)

dbSNP: rs875989903
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
LDLR-LOVD, British Heart Foundation RCV000211601 SCV000294849 pathogenic Hypercholesterolemia, familial, 1 2016-03-25 criteria provided, single submitter literature only
Robarts Research Institute, Western University RCV000211601 SCV000484804 likely pathogenic Hypercholesterolemia, familial, 1 criteria provided, single submitter clinical testing
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille RCV000211601 SCV000583713 pathogenic Hypercholesterolemia, familial, 1 2017-03-30 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute RCV001256904 SCV001433409 pathogenic not provided 2019-02-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001389664 SCV001591109 pathogenic Familial hypercholesterolemia 2023-07-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asp217*) 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 hypercholesterolemia (PMID: 19446849). ClinVar contains an entry for this variant (Variation ID: 226328). For these reasons, this variant has been classified as Pathogenic.
Laboratory of molecular diagnosis of dyslipidemias, Università egli studi di Napoli Federico II RCV000211601 SCV001653605 pathogenic Hypercholesterolemia, familial, 1 2021-05-24 criteria provided, single submitter clinical testing
Cardiovascular Genetics Laboratory, PathWest Laboratory Medicine WA - Fiona Stanley Hospital RCV000211601 SCV000268573 pathogenic Hypercholesterolemia, familial, 1 2014-08-14 no assertion criteria provided clinical testing

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