Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
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. |