Submissions for variant NM_174936.4(PCSK9):c.2038C>T (p.Arg680Trp)

gnomAD frequency: 0.00001  dbSNP: rs533555352

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies, APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix	RCV000417338	SCV000503503	likely benign	Hypercholesterolemia, autosomal dominant, 3	2016-12-16	criteria provided, single submitter	clinical testing	subject mutated among 2600 FH index cases screened = 1, family member = 1, without co-segregation / Software predictions: Damaging
Robarts Research Institute, Western University	RCV000660749	SCV000782984	uncertain significance	Hypercholesterolemia, familial, 1	2018-01-02	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000775305	SCV000909564	likely benign	Familial hypercholesterolemia	2018-10-18	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000417338	SCV001667838	likely benign	Hypercholesterolemia, autosomal dominant, 3	2024-12-27	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV001778957	SCV002015044	likely benign	not specified	2021-10-23	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV003168612	SCV003911411	likely benign	Cardiovascular phenotype	2022-11-02	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.