Submissions for variant NM_174936.4(PCSK9):c.169G>A (p.Glu57Lys)

gnomAD frequency: 0.00067  dbSNP: rs145886902

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Robarts Research Institute, Western University	RCV000660745	SCV000782980	uncertain significance	Hypercholesterolemia, familial, 1	2018-01-02	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000771580	SCV000904164	likely benign	Familial hypercholesterolemia	2018-03-26	criteria provided, single submitter	clinical testing
Invitae	RCV000861885	SCV001002298	likely benign	Hypercholesterolemia, autosomal dominant, 3	2024-01-18	criteria provided, single submitter	clinical testing
GeneDx	RCV001560960	SCV001783473	likely benign	not provided	2020-12-10	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 16465619)
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV001560960	SCV002046501	benign	not provided	2020-12-23	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002397343	SCV002714262	likely benign	Cardiovascular phenotype	2018-03-10	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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.