Submissions for variant NM_174936.4(PCSK9):c.158C>T (p.Ala53Val)

Total submissions: 21

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000030348	SCV000053015	benign	Hypercholesterolemia, familial, 1	2011-08-18	criteria provided, single submitter	clinical testing	Converted during submission to Benign.
PreventionGenetics, part of Exact Sciences	RCV000244074	SCV000316570	benign	not specified		criteria provided, single submitter	clinical testing
Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge	RCV000030348	SCV000323032	benign	Hypercholesterolemia, familial, 1	2016-03-01	criteria provided, single submitter	research	MAF = 7% in 100 subjects with average plasma cholesterol
Illumina Laboratory Services, Illumina	RCV000609972	SCV000358217	likely benign	Hypercholesterolemia, autosomal dominant, 3	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina	RCV000373308	SCV000358218	benign	Hypobetalipoproteinemia	2018-08-16	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
GeneDx	RCV000244074	SCV000519556	benign	not specified	2016-09-30	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.
Laboratory of Genetics and Molecular Cardiology, University of São Paulo	RCV000030348	SCV000588679	benign	Hypercholesterolemia, familial, 1	2016-03-01	criteria provided, single submitter	research
Color Diagnostics, LLC DBA Color Health	RCV000030348	SCV000690972	benign	Hypercholesterolemia, familial, 1	2017-06-22	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000609972	SCV000743996	benign	Hypercholesterolemia, autosomal dominant, 3	2016-04-26	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000609972	SCV001730493	benign	Hypercholesterolemia, autosomal dominant, 3	2024-02-01	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001811217	SCV002049599	benign	not provided	2023-11-29	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002399345	SCV002705710	benign	Cardiovascular phenotype	2015-12-14	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, 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.
Fulgent Genetics, Fulgent Genetics	RCV000609972	SCV002797989	benign	Hypercholesterolemia, autosomal dominant, 3	2021-09-28	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV000609972	SCV004844022	benign	Hypercholesterolemia, autosomal dominant, 3	2024-02-05	criteria provided, single submitter	clinical testing
GENinCode PLC	RCV003148634	SCV005077866	benign	Familial hypercholesterolemia	2022-07-01	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001811217	SCV005257971	likely benign	not provided		criteria provided, single submitter	not provided
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum	RCV000030348	SCV000606680	benign	Hypercholesterolemia, familial, 1		no assertion criteria provided	research
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000609972	SCV000734034	benign	Hypercholesterolemia, autosomal dominant, 3		no assertion criteria provided	clinical testing
Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences	RCV000609972	SCV001467727	pathogenic	Hypercholesterolemia, autosomal dominant, 3		flagged submission	research
Clinical Genetics, Academic Medical Center	RCV000244074	SCV001921736	benign	not specified		no assertion criteria provided	clinical testing
Cohesion Phenomics	RCV003148634	SCV003836772	benign	Familial hypercholesterolemia	2023-02-09	no assertion criteria provided	clinical testing