ClinVar Miner

Submissions for variant NM_152296.5(ATP1A3):c.2487G>A (p.Pro829=)

gnomAD frequency: 0.00759  dbSNP: rs45606534
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Total submissions: 16
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000375463 SCV000413407 benign Dystonia 12 2018-01-13 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 RCV000262098 SCV000413408 benign Alternating hemiplegia of childhood 2 2018-01-13 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 RCV000375463 SCV000556854 benign Dystonia 12 2024-02-01 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000517496 SCV000612449 benign not specified 2017-07-07 criteria provided, single submitter clinical testing
GeneDx RCV001528401 SCV001934934 benign not provided 2019-08-06 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000262098 SCV002540005 benign Alternating hemiplegia of childhood 2 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002259860 SCV002540007 benign Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002259861 SCV002540008 benign Developmental and epileptic encephalopathy 99 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000375463 SCV002540009 benign Dystonia 12 2021-12-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001528401 SCV002543934 benign not provided 2024-03-01 criteria provided, single submitter clinical testing ATP1A3: BP4, BP7, BS1, BS2
Fulgent Genetics, Fulgent Genetics RCV002504111 SCV002805444 benign Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome; Dystonia 12; Alternating hemiplegia of childhood 2; Developmental and epileptic encephalopathy 99 2021-07-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004549735 SCV004794182 benign ATP1A3-related disorder 2019-10-03 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001528401 SCV001740094 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001528401 SCV001807676 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000517496 SCV001952027 benign not specified no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000517496 SCV002036240 benign not specified no assertion criteria provided clinical testing

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