ClinVar Miner

Submissions for variant NM_152296.5(ATP1A3):c.1839G>A (p.Thr613=)

gnomAD frequency: 0.00001  dbSNP: rs376852509
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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 RCV001314685 SCV001505228 uncertain significance Dystonia 12 2023-09-04 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1015774). This variant has not been reported in the literature in individuals affected with ATP1A3-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change affects codon 613 of the ATP1A3 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the ATP1A3 protein. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
CeGaT Center for Human Genetics Tuebingen RCV003222303 SCV003918136 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing ATP1A3: BP4

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