ClinVar Miner

Submissions for variant NM_000702.4(ATP1A2):c.2675T>C (p.Met892Thr)

gnomAD frequency: 0.00001  dbSNP: rs794727222
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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) RCV000175405 SCV000226881 uncertain significance not provided 2014-12-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000763750 SCV000894636 uncertain significance Alternating hemiplegia of childhood 1; Migraine, familial hemiplegic, 2 2018-10-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001852147 SCV002162309 uncertain significance Familial hemiplegic migraine 2022-11-08 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 892 of the ATP1A2 protein (p.Met892Thr). This variant is present in population databases (rs794727222, gnomAD 0.003%). 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: 194925). 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.

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