ClinVar Miner

Submissions for variant NM_000702.4(ATP1A2):c.1827+3A>G (rs377238291)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000475652 SCV000544729 uncertain significance Familial hemiplegic migraine 2016-05-08 criteria provided, single submitter clinical testing This sequence change falls in intron 13 of the ATP1A2 mRNA. It does not directly change the encoded amino acid sequence of the ATP1A2 protein. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a ATP1A2-related disease. This variant has been observed in an individual with ATP1A2-related disease (Invitae database). However, in that individual pathogenic allele were also identified in a different gene, which suggests that this c.1827+3A>G variant was not the primary cause of disease. Algorithms developed to predict the effect of nucleotide changes on mRNA splicing suggest that this intronic variant may alter mRNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this is a novel intronic change with uncertain impact on splicing. It has been classified as a Variant of Uncertain Significance.

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