Submissions for variant NM_000021.4(PSEN1):c.234C>T (p.Gly78=)

gnomAD frequency: 0.00012  dbSNP: rs143782428

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV002539275	SCV001021966	likely benign	Alzheimer disease 3; Frontotemporal dementia; Pick disease; Acne inversa, familial, 3	2024-01-20	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001120366	SCV001278847	benign	Dilated cardiomyopathy 1U	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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Laboratory Services, Illumina	RCV001120367	SCV001278848	uncertain significance	Alzheimer disease 3	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. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Ambry Genetics	RCV003259007	SCV003947842	likely benign	Inborn genetic diseases	2023-06-09	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000878970	SCV001807417	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000878970	SCV001964657	likely benign	not provided		no assertion criteria provided	clinical testing