Submissions for variant NM_000447.3(PSEN2):c.185G>A (p.Arg62His)

gnomAD frequency: 0.01433  dbSNP: rs58973334

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	RCV000172777	SCV000051595	benign	Alzheimer disease	2013-06-24	criteria provided, single submitter	research
Illumina Laboratory Services, Illumina	RCV000283560	SCV000355165	likely benign	Dilated cardiomyopathy 1V	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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina	RCV000641029	SCV000355166	likely benign	Alzheimer disease 4	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000641029	SCV000762647	benign	Alzheimer disease 4	2024-01-23	criteria provided, single submitter	clinical testing
SIB Swiss Institute of Bioinformatics	RCV000641029	SCV000803616	likely benign	Alzheimer disease 4	2018-05-31	criteria provided, single submitter	curation	This variant is interpreted as a Likely Benign, for Alzheimer disease 4, in Autosomal Dominant manner. The following ACMG Tag(s) were applied: BS3 => Well-established in vitro or in vivo functional studies show no damaging effect on protein function or splicing (PMID:15663477). BP4 => Multiple lines of computational evidence suggest no impact on gene or gene product (conservation, evolutionary, splicing impact, etc.). BS1-Supporting => BS1 downgraded in strength to supporting.
Athena Diagnostics	RCV001664396	SCV001880008	benign	not specified	2021-04-24	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000084258	SCV004009940	benign	not provided	2023-06-01	criteria provided, single submitter	clinical testing	PSEN2: BP4, BS1, BS2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000084258	SCV004564748	likely benign	not provided	2023-09-22	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000084258	SCV005263807	likely benign	not provided		criteria provided, single submitter	not provided
VIB Department of Molecular Genetics, University of Antwerp	RCV000084258	SCV000116394	not provided	not provided		no assertion provided	not provided
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000084258	SCV001809664	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV001664396	SCV001924517	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001664396	SCV001930481	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001664396	SCV001965073	benign	not specified		no assertion criteria provided	clinical testing