Submissions for variant NM_174936.4(PCSK9):c.1020T>C (p.Asn340=)

gnomAD frequency: 0.00006  dbSNP: rs769782435

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Color Diagnostics, LLC DBA Color Health	RCV000775278	SCV000909537	likely benign	Familial hypercholesterolemia	2018-09-29	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001078971	SCV001006652	likely benign	Hypercholesterolemia, autosomal dominant, 3	2023-08-24	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000865650	SCV001134561	likely benign	not provided	2019-05-15	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002388398	SCV002673832	likely benign	Cardiovascular phenotype	2020-06-29	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.
All of Us Research Program, National Institutes of Health	RCV001078971	SCV004836408	likely benign	Hypercholesterolemia, autosomal dominant, 3	2023-12-01	criteria provided, single submitter	clinical testing
GENinCode PLC	RCV000775278	SCV005441507	likely benign	Familial hypercholesterolemia	2023-07-25	criteria provided, single submitter	clinical testing	This is a synonymous (silent) variant that is not predicted by SpliceAI to impact splicing. In addition, it occurs at a nucleotide that is not conserved. Therefore this variant has been classified as Likely Benign (BP4, BP7).