ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1187del

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies, APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix RCV000417253 SCV000503312 pathogenic Hypercholesterolemia, familial, 1 2016-12-16 criteria provided, single submitter clinical testing subject mutated among 2600 FH index cases screened = 1
Laboratory of molecular diagnosis of dyslipidemias, Università egli studi di Napoli Federico II RCV000417253 SCV001653625 pathogenic Hypercholesterolemia, familial, 1 2021-05-24 criteria provided, single submitter clinical testing
3billion RCV000417253 SCV002572880 pathogenic Hypercholesterolemia, familial, 1 2022-09-01 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. The variant in the canonical splice site is predicted to alter splicing, resulting in a loss or disruption of normal protein function. Multiple pathogenic loss-of-function variants are reported downstream of the variant. The variant has been reported at least twice as pathogenic with clinical assertions and evidence for the classification (ClinVar ID: VCV000375810). Therefore, this variant is classified as Pathogenic according to the recommendation of ACMG/AMP guideline.
Labcorp Genetics (formerly Invitae), Labcorp RCV003581655 SCV004272270 pathogenic Familial hypercholesterolemia 2023-06-17 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 375810). This premature translational stop signal has been observed in individual(s) with familial hypercholesterolemia (PMID: 30710474). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gly396Alafs*17) 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 RCV000417253 SCV000606349 pathogenic Hypercholesterolemia, familial, 1 no assertion criteria provided research

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