Submissions for variant NM_000021.4(PSEN1):c.953A>G (p.Glu318Gly)

gnomAD frequency: 0.01497  dbSNP: rs17125721

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	RCV000172776	SCV000051594	benign	Alzheimer disease	2013-06-24	criteria provided, single submitter	research
PreventionGenetics, part of Exact Sciences	RCV000242303	SCV000301543	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000382419	SCV000388102	likely benign	Dilated cardiomyopathy 1U	2018-03-06	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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Illumina Laboratory Services, Illumina	RCV000290884	SCV000388103	benign	Alzheimer disease 3	2018-03-06	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.
Invitae	RCV000559984	SCV000639609	benign	Alzheimer disease 3; Frontotemporal dementia; Pick disease; Acne inversa, familial, 3	2024-01-31	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000242303	SCV000705960	benign	not specified	2017-02-07	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000084390	SCV000843423	benign	not provided	2017-09-22	criteria provided, single submitter	clinical testing
GeneDx	RCV000084390	SCV001895073	benign	not provided	2020-02-11	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 10896268, 32087291, 30381075, 28798025, 29177109, 28554858, 27930341, 27535542, 27357204, 27312774, 8773614, 23990795, 10643802, 25333068, 20194882, 19111578, 22906081, 21959359, 21033353, 22810102, 16033913)
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000084390	SCV004563047	benign	not provided	2023-10-23	criteria provided, single submitter	clinical testing
VIB Department of Molecular Genetics, University of Antwerp	RCV000084390	SCV000116526	not provided	not provided		no assertion provided	not provided
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000242303	SCV001808320	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000242303	SCV001968130	benign	not specified		no assertion criteria provided	clinical testing