Submissions for variant NM_000447.3(PSEN2):c.861C>T (p.Pro287=)

gnomAD frequency: 0.00436  dbSNP: rs75733498

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000345435	SCV000355183	likely 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 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	RCV000381340	SCV000355184	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.
Athena Diagnostics Inc	RCV001289157	SCV001476792	benign	not specified	2020-04-20	criteria provided, single submitter	clinical testing
Invitae	RCV000381340	SCV001730694	benign	Alzheimer disease 4	2024-01-27	criteria provided, single submitter	clinical testing
GeneDx	RCV001579664	SCV001867208	benign	not provided	2020-02-29	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 31914229)
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001579664	SCV001808082	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001579664	SCV001966245	likely benign	not provided		no assertion criteria provided	clinical testing