ClinVar Miner

Submissions for variant NM_000702.4(ATP1A2):c.1709C>T (p.Thr570Met)

gnomAD frequency: 0.00001  dbSNP: rs758815329
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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 RCV001323714 SCV001514642 uncertain significance Familial hemiplegic migraine 2020-11-16 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. 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 been observed in individual(s) with clinical features of episodic ataxia (PMID: 27066515). This variant is present in population databases (rs758815329, ExAC 0.03%). This sequence change replaces threonine with methionine at codon 570 of the ATP1A2 protein (p.Thr570Met). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and methionine.

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