ClinVar Miner

Submissions for variant NM_152296.5(ATP1A3):c.357C>T (p.Asn119=)

gnomAD frequency: 0.00108  dbSNP: rs143547136
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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 RCV000404431 SCV000413459 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.
Illumina Laboratory Services, Illumina RCV000311209 SCV000413460 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.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000513805 SCV000610631 likely benign not provided 2017-10-03 criteria provided, single submitter clinical testing
Invitae RCV000311209 SCV000645412 benign Dystonia 12 2024-01-30 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000513805 SCV001143141 benign not provided 2019-01-07 criteria provided, single submitter clinical testing
GeneDx RCV000513805 SCV001907198 benign not provided 2018-10-16 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000404431 SCV002539081 benign Alternating hemiplegia of childhood 2 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002259886 SCV002539082 benign Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002259887 SCV002539083 benign Developmental and epileptic encephalopathy 99 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000311209 SCV002539084 benign Dystonia 12 2021-12-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000513805 SCV002585749 benign not provided 2024-01-01 criteria provided, single submitter clinical testing ATP1A3: BP4, BP7, BS1, BS2
Fulgent Genetics, Fulgent Genetics RCV002502273 SCV002813685 likely benign Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome; Dystonia 12; Alternating hemiplegia of childhood 2; Developmental and epileptic encephalopathy 99 2022-05-05 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000513805 SCV001742845 likely benign not provided no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000513805 SCV001800568 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000513805 SCV001926896 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000513805 SCV001964030 likely benign not provided no assertion criteria provided clinical testing

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