ClinVar Miner

Submissions for variant NM_000702.4(ATP1A2):c.2283G>A (p.Glu761=)

dbSNP: rs760732436
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002022271 SCV002266434 uncertain significance Familial hemiplegic migraine 2021-06-25 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. This variant has not been reported in the literature in individuals affected with ATP1A2-related conditions. This variant is present in population databases (rs760732436, ExAC 0.006%). This sequence change affects codon 761 of the ATP1A2 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the ATP1A2 protein. It affects a nucleotide within the consensus splice site of the intron.

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