ClinVar Miner

Submissions for variant NM_152296.5(ATP1A3):c.1076C>A (p.Ser359Tyr)

dbSNP: rs2075237416
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001249730 SCV001423761 likely pathogenic ATP1A3-associated neurological disorder 2019-11-27 criteria provided, single submitter clinical testing The ATP1A3 c.1076C>A (p.Ser359Tyr) variant is a missense variant. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. This variant is not found in the Genome Aggregation Database in a region of good sequence coverage, so the variant is presumed to be rare. Based on the de novo state of the variant and its absence from population frequency databases, the p.Ser359Tyr variant is classified as likely pathogenic for ATP1A3-related neurologic disorders.

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