ClinVar Miner

Submissions for variant NM_152296.5(ATP1A3):c.1080G>A (p.Thr360=)

gnomAD frequency: 0.00001  dbSNP: rs370511776
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000863845 SCV001004567 likely benign Dystonia 12 2023-12-04 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001135539 SCV001295321 benign Alternating hemiplegia of childhood 2 2017-05-03 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Laboratory Services, Illumina RCV000863845 SCV001295322 benign Dystonia 12 2017-05-03 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Genome-Nilou Lab RCV001135539 SCV002539044 benign Alternating hemiplegia of childhood 2 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002260079 SCV002539045 benign Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002260080 SCV002539046 benign Developmental and epileptic encephalopathy 99 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000863845 SCV002539047 benign Dystonia 12 2021-12-05 criteria provided, single submitter clinical testing

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