Submissions for variant NM_000602.5(SERPINE1):c.43G>A (p.Ala15Thr)

gnomAD frequency: 0.07905  dbSNP: rs6092

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000014541	SCV000465831	likely benign	Congenital plasminogen activator inhibitor type 1 deficiency	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). 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 determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx	RCV001723567	SCV001950776	benign	not provided	2018-11-12	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 12856128, 20981092, 15182577, 15650551)
Mendelics	RCV001530150	SCV002519320	benign	not specified	2023-03-12	criteria provided, single submitter	clinical testing
OMIM	RCV000014541	SCV000034792	pathogenic	Congenital plasminogen activator inhibitor type 1 deficiency	2005-01-01	no assertion criteria provided	literature only
GeneReviews	RCV000014541	SCV000679651	not provided	Congenital plasminogen activator inhibitor type 1 deficiency		no assertion provided	literature only
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001530150	SCV001744873	benign	not specified		no assertion criteria provided	clinical testing
HLA Laboratory, Instituto Nacional de Enfermedades Respiratorias Ismael Cosio Villegas	RCV001807002	SCV001750079	uncertain significance	Susceptibility to severe coronavirus disease (COVID-19) due to an impaired coagulation process	2021-06-29	no assertion criteria provided	research	Differences in coagulation-related proteins according to the genotype of patients with severe COVID-19
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001530150	SCV001953246	benign	not specified		no assertion criteria provided	clinical testing
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology	RCV000014541	SCV002515760	likely benign	Congenital plasminogen activator inhibitor type 1 deficiency		no assertion criteria provided	research
PreventionGenetics, part of Exact Sciences	RCV003982840	SCV004796228	likely benign	SERPINE1-related disorder	2020-08-18	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).