ClinVar Miner

Submissions for variant NM_000702.4(ATP1A2):c.275G>A (p.Arg92His)

gnomAD frequency: 0.00002  dbSNP: rs774275559
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000390113 SCV000337708 uncertain significance not provided 2015-11-24 criteria provided, single submitter clinical testing
Invitae RCV001361544 SCV001557521 uncertain significance Familial hemiplegic migraine 2023-10-09 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 92 of the ATP1A2 protein (p.Arg92His). This variant is present in population databases (rs774275559, gnomAD 0.006%). 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: 284898). 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. 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.
GeneDx RCV000390113 SCV002043906 uncertain significance not provided 2021-12-21 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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