ClinVar Miner

Submissions for variant NM_000702.4(ATP1A2):c.1577C>T (p.Pro526Leu)

gnomAD frequency: 0.00001  dbSNP: rs764078366
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001369895 SCV001566353 uncertain significance Familial hemiplegic migraine 2024-09-30 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 526 of the ATP1A2 protein (p.Pro526Leu). This variant is present in population databases (rs764078366, gnomAD 0.01%). This missense change has been observed in individual(s) with clinical features of ATP1A2-related conditions (PMID: 36703223). ClinVar contains an entry for this variant (Variation ID: 1060459). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt ATP1A2 protein function with a negative predictive value of 80%. 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.
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital RCV002476688 SCV002774955 uncertain significance not provided 2022-12-17 criteria provided, single submitter clinical testing

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