ClinVar Miner

Submissions for variant NM_152296.5(ATP1A3):c.2653G>A (p.Val885Ile)

gnomAD frequency: 0.00058  dbSNP: rs149600313
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001086631 SCV000645407 likely benign Dystonia 12 2024-01-21 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000538377 SCV001143140 likely benign not provided 2019-03-05 criteria provided, single submitter clinical testing
GeneDx RCV000538377 SCV001949765 benign not provided 2019-02-20 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002260002 SCV002539992 benign Alternating hemiplegia of childhood 2 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002260003 SCV002539993 benign Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002260004 SCV002539994 benign Developmental and epileptic encephalopathy 99 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001086631 SCV002539996 benign Dystonia 12 2021-12-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004553233 SCV004104075 uncertain significance ATP1A3-related disorder 2023-01-30 criteria provided, single submitter clinical testing The ATP1A3 c.2692G>A variant is predicted to result in the amino acid substitution p.Val898Ile. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.12% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/19-42473622-C-T), which may be too common to be causative of disease. Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
CeGaT Center for Human Genetics Tuebingen RCV000538377 SCV004143848 benign not provided 2022-08-01 criteria provided, single submitter clinical testing ATP1A3: BS1, BS2

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