ClinVar Miner

Submissions for variant NM_000702.4(ATP1A2):c.254C>T (p.Pro85Leu)

gnomAD frequency: 0.00001  dbSNP: rs1300541222
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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 RCV002008905 SCV002277397 uncertain significance Familial hemiplegic migraine 2021-12-08 criteria provided, single submitter clinical testing 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. 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 missense change has been observed in individual(s) with clinical features of ATP1A2-related conditions (Invitae). This variant is present in population databases (no rsID available, gnomAD 0.002%). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 85 of the ATP1A2 protein (p.Pro85Leu).

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