ClinVar Miner

Submissions for variant NM_000702.4(ATP1A2):c.1418C>T (p.Pro473Leu)

dbSNP: rs1000639881
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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 RCV001062247 SCV001227032 uncertain significance Familial hemiplegic migraine 2019-11-26 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 473 of the ATP1A2 protein (p.Pro473Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine. 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C65"). This variant has not been reported in the literature in individuals with ATP1A2-related conditions. This variant is not present in population databases (ExAC no frequency).

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