ClinVar Miner

Submissions for variant NM_152296.5(ATP1A3):c.2843T>G (p.Leu948Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV002510647 SCV002820146 uncertain significance Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome criteria provided, single submitter clinical testing The missense variant p.L948R in ATP1A3 (NM_152296.5) has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.L948R variant is novel (not in any individuals) in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. There is a moderate physicochemical difference between leucine and arginine. The p.L948R missense variant is predicted to be damaging by both SIFT and PolyPhen2. The leucine residue at codon 948 of ATP1A3 is conserved in all mammalian species. The nucleotide c.2843 in ATP1A3 is predicted conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance

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