ClinVar Miner

Submissions for variant NM_000527.4(LDLR):c.191-1G>A (rs879254433)

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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 RCV000238435 SCV000294526 likely pathogenic 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 RCV000238435 SCV000503109 pathogenic Familial hypercholesterolemia 1 2016-12-16 criteria provided, single submitter clinical testing subjects mutated among 2600 FH index cases screened = 25 , family members = 13
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille RCV000238435 SCV000583640 pathogenic Familial hypercholesterolemia 1 2017-03-30 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000588923 SCV000697216 pathogenic Familial hypercholesterolemia 2016-09-13 criteria provided, single submitter clinical testing Variant summary: The LDLR c.191-1G>A variant involves the alteration of a conserved nucleotide located at a position known to affect splicing with 5/5 splice prediction tools predicting the loss of a splice site, although these predictions have yet to be functionally assessed. The variant of interest was not found in controls (ExAC, 1000 Gs, ESP, or publication controls) and has been reported in multiple affected individuals via publications. In addition, a database classifies the variant as "likely pathogenic." Therefore, the variant of interest has been classified as Pathogenic.

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