Submissions for variant NM_000484.4(APP):c.2124C>T (p.Gly708=)

gnomAD frequency: 0.00348  dbSNP: rs148888161

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV001082457	SCV000435515	likely benign	Alzheimer disease	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.
Athena Diagnostics Inc	RCV000710591	SCV000840833	benign	not provided	2017-09-20	criteria provided, single submitter	clinical testing
Invitae	RCV001082457	SCV001015768	benign	Alzheimer disease	2024-01-25	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002488729	SCV002798392	likely benign	Cerebral amyloid angiopathy, APP-related; Alzheimer disease type 1	2021-07-29	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000710591	SCV004151043	likely benign	not provided	2023-11-01	criteria provided, single submitter	clinical testing	APP: BP4, BP7
OMIM	RCV000019719	SCV000040017	benign	APP POLYMORPHISM	1992-07-01	no assertion criteria provided	literature only
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001580125	SCV001809770	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000710591	SCV001968441	likely benign	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000710591	SCV002035979	likely benign	not provided		no assertion criteria provided	clinical testing