ClinVar Miner

Submissions for variant NM_000702.4(ATP1A2):c.1251G>A (p.Thr417=)

dbSNP: rs142309356
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001698162 SCV000527828 likely benign not provided 2020-01-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001861566 SCV002172847 uncertain significance Familial hemiplegic migraine 2023-10-13 criteria provided, single submitter clinical testing This sequence change affects codon 417 of the ATP1A2 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the ATP1A2 protein. This variant is present in population databases (rs142309356, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with ATP1A2-related conditions. ClinVar contains an entry for this variant (Variation ID: 386256). 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.

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