Submissions for variant NM_000527.5(LDLR):c.191-1G>A (rs879254433)

Total submissions: 4

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.