Submissions for variant NM_000527.5(LDLR):c.90C>T (p.Asn30=)

gnomAD frequency: 0.00965  dbSNP: rs72658855

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
LDLR-LOVD, British Heart Foundation	RCV000237404	SCV000294458	benign	Hypercholesterolemia, familial, 1	2016-03-25	criteria provided, single submitter	literature only
Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge	RCV000237404	SCV000322876	uncertain significance	Hypercholesterolemia, familial, 1	2016-03-01	criteria provided, single submitter	research	0/190 non-FH alleles
Illumina Laboratory Services, Illumina	RCV000237404	SCV000410525	likely benign	Hypercholesterolemia, familial, 1	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
GeneDx	RCV000440331	SCV000528018	benign	not specified	2017-01-09	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae	RCV001081718	SCV000556787	benign	Familial hypercholesterolemia	2024-02-01	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000237404	SCV000689782	benign	Hypercholesterolemia, familial, 1	2017-07-06	criteria provided, single submitter	clinical testing
Robarts Research Institute, Western University	RCV000237404	SCV000782954	likely benign	Hypercholesterolemia, familial, 1	2018-01-02	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000759077	SCV000888169	benign	not provided	2022-11-23	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002446469	SCV002682875	likely benign	Cardiovascular phenotype	2015-01-09	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum	RCV000237404	SCV000606011	benign	Hypercholesterolemia, familial, 1		no assertion criteria provided	research
Natera, Inc.	RCV001081718	SCV002086357	likely benign	Familial hypercholesterolemia	2019-11-15	no assertion criteria provided	clinical testing
Cohesion Phenomics	RCV001081718	SCV003836770	likely benign	Familial hypercholesterolemia	2023-02-09	no assertion criteria provided	clinical testing