ClinVar Miner

Submissions for variant NM_000702.4(ATP1A2):c.8G>A (p.Arg3His)

gnomAD frequency: 0.00011  dbSNP: rs781687346
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001711473 SCV000240373 likely benign not provided 2021-02-08 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000186804 SCV000246629 likely benign not specified 2015-01-12 criteria provided, single submitter clinical testing
Invitae RCV000694429 SCV000822875 uncertain significance Familial hemiplegic migraine 2024-01-10 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 3 of the ATP1A2 protein (p.Arg3His). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. 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: 204902). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt ATP1A2 protein function with a negative predictive value of 95%. 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.
New York Genome Center RCV001781544 SCV002025748 uncertain significance Migraine, familial hemiplegic, 2 2020-07-06 criteria provided, single submitter clinical testing

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