Submissions for variant NM_000527.5(LDLR):c.2389+14G>A

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
ClinGen Familial Hypercholesterolemia Variant Curation Expert Panel	RCV000238567	SCV005375282	uncertain significance	Hypercholesterolemia, familial, 1	2023-03-27	reviewed by expert panel	curation	The NM_000527.5(LDLR):c.2389+14G>A variant is classified as Uncertain significance - insufficient evidence for Familial Hypercholesterolemia by applying ACMG/AMP evidence code BP4 as defined by the ClinGen Familial Hypercholesterolemia Expert Panel LDLR-specific variant curation guidelines (specification version 1.2) on 27 March 2023. The supporting evidence is as follows: BP4: No REVEL, splicing evaluation is required. Functional data on splicing not available. A) not within limits B) does not create GT C) not within limits Variant is not predicted to alter splicing.
LDLR-LOVD, British Heart Foundation	RCV000238567	SCV000295978	likely benign	Hypercholesterolemia, familial, 1	2016-03-25	criteria provided, single submitter	literature only
Laboratory of Genetics and Molecular Cardiology, University of São Paulo	RCV000238567	SCV000588659	uncertain significance	Hypercholesterolemia, familial, 1	2016-03-01	criteria provided, single submitter	research
Labcorp Genetics (formerly Invitae), Labcorp	RCV002518501	SCV003505765	benign	Familial hypercholesterolemia	2024-01-31	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003919999	SCV004730230	likely benign	LDLR-related disorder	2021-10-27	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).