ClinVar Miner

Submissions for variant NM_000702.4(ATP1A2):c.1816G>A (p.Ala606Thr) (rs1414742926)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000520358 SCV000617440 pathogenic not provided 2017-08-02 criteria provided, single submitter clinical testing The A606T pathogenic variant in the ATP1A2 gene has been previously reported to segregate with disease in multiple affected individuals from several families (Riant et al., 2005, Jen et al., 2007). Functional studies demonstrated that A606T results in loss of sodium-potassium pump function (Tavraz et al., 2008, Jen et al., 2007). The A606T variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The A606T variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. Therefore, this variant is pathogenic and its presence is consistent with the diagnosis in this patient.

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