ClinVar Miner

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

gnomAD frequency: 0.00696  dbSNP: rs55984131
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Total submissions: 11
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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
Invitae 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 2023-06-01 criteria provided, single submitter clinical testing ATP2A2: BP4, BP7
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

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