Submissions for variant NM_000439.5(PCSK1):c.1764G>A (p.Lys588=)

gnomAD frequency: 0.00006  dbSNP: rs538803955

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000397585	SCV000459164	uncertain significance	Monogenic Non-Syndromic Obesity	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000310895	SCV000459165	uncertain significance	Obesity due to prohormone convertase I deficiency	2016-06-14	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001701867	SCV005189282	uncertain significance	not provided		criteria provided, single submitter	not provided
Clinical Genetics, Academic Medical Center	RCV001700083	SCV001917525	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001701867	SCV001930421	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003932461	SCV004754395	likely benign	PCSK1-related disorder	2022-02-07	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).