ClinVar Miner

Submissions for variant NM_152296.5(ATP1A3):c.2946C>T (p.Phe982=)

gnomAD frequency: 0.00001  dbSNP: rs182309368
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001423719 SCV001626301 likely benign Dystonia 12 2025-01-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004550147 SCV004760273 uncertain significance ATP1A3-related disorder 2024-01-23 no assertion criteria provided clinical testing The ATP1A3 c.2985C>T variant is not predicted to result in an amino acid change (p.=). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0063% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/19-42471468-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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