Submissions for variant NM_152296.5(ATP1A3):c.2146AAG[1] (p.Lys717del)

dbSNP: rs1064795403

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000480245	SCV000571169	likely pathogenic	not provided	2016-07-29	criteria provided, single submitter	clinical testing	The c.2149_2151delAAG variant in the ATP1A3 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The c.2149_2151delAAG variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The c.2149_2151delAAG variant results in an in-frame deletion and is predicted to cause loss of a Lysine residue at codon 717, denoted Lys717del. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. Therefore, we interpret the c.2149_2151delAAG as a likely pathogenic variant.
Juno Genomics, Hangzhou Juno Genomics, Inc	RCV004796192	SCV005417078	uncertain significance	Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome; Dystonia 12; Alternating hemiplegia of childhood 2; Developmental and epileptic encephalopathy 99		criteria provided, single submitter	clinical testing	PM2_Supporting+PM4+PS2_Supporting