Submissions for variant NM_000447.3(PSEN2):c.261C>T (p.His87=)

gnomAD frequency: 0.48653  dbSNP: rs1046240

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000247730	SCV000304358	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000576709	SCV000355169	benign	Alzheimer disease 4	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Laboratory Services, Illumina	RCV000394749	SCV000355170	benign	Dilated cardiomyopathy 1V	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Athena Diagnostics Inc	RCV000576709	SCV000677437	benign	Alzheimer disease 4	2017-04-25	criteria provided, single submitter	clinical testing
Invitae	RCV000576709	SCV001720978	benign	Alzheimer disease 4	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001598635	SCV001827809	benign	not provided	2018-09-18	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000576709	SCV002031998	benign	Alzheimer disease 4	2021-10-25	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000394749	SCV002031999	benign	Dilated cardiomyopathy 1V	2021-10-25	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000247730	SCV001742287	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000247730	SCV001808034	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000247730	SCV001921492	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000247730	SCV001951981	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000247730	SCV001968096	benign	not specified		no assertion criteria provided	clinical testing