ClinVar Miner

Submissions for variant NM_152296.5(ATP1A3):c.55C>T (p.Arg19Cys)

gnomAD frequency: 0.00006  dbSNP: rs782229302
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000803350 SCV000943216 likely benign Dystonia 12 2023-12-02 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000803350 SCV001288166 uncertain significance Dystonia 12 2017-04-27 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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Laboratory Services, Illumina RCV001128681 SCV001288167 uncertain significance Alternating hemiplegia of childhood 2 2017-04-27 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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
OMIM RCV001777177 SCV002014596 uncertain significance not provided 2024-07-10 no assertion criteria provided literature only

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