ClinVar Miner

Submissions for variant NM_000702.4(ATP1A2):c.1097G>T (p.Gly366Val)

dbSNP: rs1057518514
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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 RCV001384299 SCV001583751 pathogenic Familial hemiplegic migraine 2022-09-23 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 366 of the ATP1A2 protein (p.Gly366Val). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with refractory epilepsy (PMID: 30185235). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 1071760). 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 expected to disrupt ATP1A2 protein function. This variant disrupts the p.Gly366 amino acid residue in ATP1A2. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 27864847). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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