Submissions for variant NM_170665.4(ATP2A2):c.327A>G (p.Glu109=)

gnomAD frequency: 0.00696  dbSNP: rs55984131

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000369188	SCV000376231	benign	Keratosis follicularis	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.
GeneDx	RCV000424919	SCV000516999	benign	not specified	2016-05-13	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000424919	SCV000538371	likely benign	not specified	2016-03-28	criteria provided, single submitter	clinical testing	Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: ExAC frequency, risk for lung cancer, silent variant
Labcorp Genetics (formerly Invitae), Labcorp	RCV000891749	SCV001035581	benign	not provided	2024-01-24	criteria provided, single submitter	clinical testing
Mendelics	RCV000369188	SCV001138819	benign	Keratosis follicularis	2019-05-28	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002259836	SCV002539118	benign	Acrokeratosis verruciformis of Hopf	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000369188	SCV002539119	benign	Keratosis follicularis	2021-12-05	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002502210	SCV002808581	likely benign	Acrokeratosis verruciformis of Hopf; Keratosis follicularis	2022-04-21	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000891749	SCV004131886	likely benign	not provided	2024-08-01	criteria provided, single submitter	clinical testing	ATP2A2: BP4, BP7
Breakthrough Genomics, Breakthrough Genomics	RCV000891749	SCV005218795	likely benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000424919	SCV001743470	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000891749	SCV001931833	likely benign	not provided		no assertion criteria provided	clinical testing