ClinVar Miner

Submissions for variant NM_000702.4(ATP1A2):c.1283G>A (p.Arg428His) (rs746478136)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000418786 SCV000523605 uncertain significance not provided 2016-02-04 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the ATP1A2 gene. The R428H variant has not beenpublished as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. It was not observedin approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome SequencingProject, indicating it is not a common benign variant in these populations. This substitution occurs at a position thatis conserved across species. In silico analysis predicts this variant is probably damaging to the proteinstructure/function. However, the R428H variant is a conservative amino acid substitution, which is not likely toimpact secondary protein structure as these residues share similar properties. Therefore, based on the currentlyavailable information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000418786 SCV001248568 uncertain significance not provided 2019-11-01 criteria provided, single submitter clinical testing

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