ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.925_931del (p.Pro309fs)

dbSNP: rs387906304
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
LDLR-LOVD, British Heart Foundation RCV000003927 SCV000295060 pathogenic Hypercholesterolemia, familial, 1 2016-03-25 criteria provided, single submitter literature only
Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge RCV000003927 SCV000599351 pathogenic Hypercholesterolemia, familial, 1 2016-03-01 criteria provided, single submitter curation
Labcorp Genetics (formerly Invitae), Labcorp RCV000810136 SCV000950326 pathogenic Familial hypercholesterolemia 2019-01-29 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in LDLR are known to be pathogenic (PMID: 20809525). This variant has been observed to segregate with familial hypercholesterolemia in multiple families (PMID: 1634609, 9409302). This variant is also known as a founder mutation FH-North Karelia in the literature. ClinVar contains an entry for this variant (Variation ID: 3729). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Pro309Lysfs*59) in the LDLR gene. It is expected to result in an absent or disrupted protein product.
Mayo Clinic Laboratories, Mayo Clinic RCV004791195 SCV005413307 pathogenic not provided 2024-05-31 criteria provided, single submitter clinical testing PS4, PVS1
OMIM RCV000003927 SCV000024092 pathogenic Hypercholesterolemia, familial, 1 1997-11-01 no assertion criteria provided literature only
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum RCV000003927 SCV000606271 pathogenic Hypercholesterolemia, familial, 1 no assertion criteria provided research

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