ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.908_926dup (p.Pro309_Ile310insGlyLeuValArgTer)

dbSNP: rs875989908
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002515609 SCV003226573 pathogenic Familial hypercholesterolemia 2022-08-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ile310Glyfs*5) 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 variant has not been reported in the literature in individuals affected with LDLR-related conditions. ClinVar contains an entry for this variant (Variation ID: 226335). For these reasons, this variant has been classified as Pathogenic.
Cardiovascular Genetics Laboratory, PathWest Laboratory Medicine WA - Fiona Stanley Hospital RCV000211587 SCV000268587 pathogenic Hypercholesterolemia, familial, 1 2013-01-23 no assertion criteria provided clinical testing

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