ClinVar Miner

Submissions for variant NM_152296.5(ATP1A3):c.2266C>T (p.Arg756Cys) (rs1064797245)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000488196 SCV000575190 likely pathogenic not provided 2016-09-30 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000501825 SCV000593519 likely pathogenic Alternating hemiplegia of childhood 2 2016-06-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV000624914 SCV000741354 pathogenic Inborn genetic diseases 2016-02-16 criteria provided, single submitter clinical testing
Invitae RCV000692668 SCV000820504 pathogenic Dystonia 12 2018-04-25 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 756 of the ATP1A3 protein (p.Arg756Cys). The arginine residue is moderately conserved and there is a large physicochemical difference between arginine and cysteine. This variant is not present in population databases (ExAC no frequency). This variant has been reported to be de novo in several individuals affected with rapid onset of ataxia, encephalopathy, dystonia, and weakness following a febrile illness (PMID: 27634470, 26400718, 27268479, 29066118). This variant has also been found to segregate with disease in 2 families (PMID: 29397530, 27726050). ClinVar contains an entry for this variant (Variation ID: 425189). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV000850500 SCV000992700 likely pathogenic Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome; Dystonia 12; Alternating hemiplegia of childhood 2 2018-10-12 criteria provided, single submitter clinical testing
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV000488196 SCV001446978 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing

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