ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.44T>C (p.Leu15Pro) (rs879254390)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
LDLR-LOVD, British Heart Foundation RCV000237294 SCV000294422 uncertain significance Familial hypercholesterolemia 1 2016-03-25 criteria provided, single submitter literature only
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies,APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix RCV000237294 SCV000503094 likely pathogenic Familial hypercholesterolemia 1 2016-12-16 criteria provided, single submitter clinical testing subject mutated among 2600 FH index cases screened = 1 / Software predictions: Damaging
Fundacion Hipercolesterolemia Familiar RCV000237294 SCV000607405 uncertain significance Familial hypercholesterolemia 1 2016-03-01 criteria provided, single submitter research
Invitae RCV001062304 SCV001227094 uncertain significance Familial hypercholesterolemia 2019-12-06 criteria provided, single submitter clinical testing This sequence change replaces leucine with proline at codon 15 of the LDLR protein (p.Leu15Pro). The leucine residue is moderately conserved and there is a moderate physicochemical difference between leucine and proline. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with clinical features of familial hypercholesterolemia (PMID: 12052488, Invitae). This variant is also described as L-7P in the literature. ClinVar contains an entry for this variant (Variation ID: 250981). This variant has been reported to affect LDLR protein function (PMID: 27175606). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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