ClinVar Miner

Submissions for variant NM_000702.4(ATP1A2):c.2473G>A (p.Glu825Lys)

dbSNP: rs2101995840
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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 RCV001364435 SCV001560584 uncertain significance Familial hemiplegic migraine 2020-04-01 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. This variant has been reported to affect ATP1A2 protein function (PMID: 24498617). This variant has been observed in individual(s) with familial hemiplegic migraine (PMID: 24498617). This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamic acid with lysine at codon 825 of the ATP1A2 protein (p.Glu825Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine.

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