ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.1370T>A (p.Ile457Asn)

dbSNP: rs768383869
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000706968 SCV000836044 uncertain significance Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2018-02-27 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with asparagine at codon 458 of the CACNA1A protein (p.Ile458Asn). The isoleucine residue is moderately conserved and there is a large physicochemical difference between isoleucine and asparagine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with CACNA1A-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.

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