ClinVar Miner

Submissions for variant NM_000702.4(ATP1A2):c.2066G>A (p.Arg689Gln)

dbSNP: rs28933401
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000761685 SCV000891861 likely pathogenic not provided 2019-09-01 criteria provided, single submitter clinical testing
GeneDx RCV000761685 SCV001824484 likely pathogenic not provided 2019-11-04 criteria provided, single submitter clinical testing Reported in large family with familial hemiplegic migraine (FHM) and benign familial infantile seizures (BFIS) and originally reported to be responsible for both disorders; however, a variant in the PRRT2 gene is now thought to cause the BFIC phenotype (Vanmolkot et al., 2003; Pelzer et al., 2014); Published in vitro functional studies demonstrate that R689Q causes decrease in catalytic turnover and increase in apparent affinity for K(+) (Segall et al., 2005); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 15115644, 24928127, 12953268, 16037212)
OMIM RCV000013783 SCV000034030 pathogenic Migraine, familial hemiplegic, 2 2014-07-15 no assertion criteria provided literature only

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