ClinVar Miner

Submissions for variant NM_152296.5(ATP1A3):c.1323G>A (p.Ala441=)

dbSNP: rs34578730
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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000145247 SCV000192304 uncertain significance Alternating hemiplegia of childhood 2 2014-06-27 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000406176 SCV000336191 benign not specified 2015-10-12 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000283640 SCV000413437 benign Dystonia 12 2018-01-12 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.
Illumina Laboratory Services, Illumina RCV000145247 SCV000413438 benign Alternating hemiplegia of childhood 2 2018-01-12 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.
Invitae RCV000283640 SCV000556855 benign Dystonia 12 2024-01-29 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000857914 SCV001143138 benign not provided 2019-07-03 criteria provided, single submitter clinical testing
GeneDx RCV000857914 SCV001771949 likely benign not provided 2021-09-24 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000857914 SCV002498477 benign not provided 2024-03-01 criteria provided, single submitter clinical testing ATP1A3: BP4, BP7, BS1, BS2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000857914 SCV001741592 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000857914 SCV001807675 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000406176 SCV001959341 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000857914 SCV001969393 likely benign not provided no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000857914 SCV002036922 likely benign not provided no assertion criteria provided clinical testing

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