ClinVar Miner

Submissions for variant NM_005670.4(EPM2A):c.986G>A (p.Cys329Tyr)

gnomAD frequency: 0.00004  dbSNP: rs780826386
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000795946 SCV000935428 uncertain significance Progressive myoclonic epilepsy 2018-11-27 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: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with EPM2A-related conditions. This variant is present in population databases (rs780826386, ExAC 0.01%). This sequence change replaces cysteine with tyrosine at codon 329 of the EPM2A protein (p.Cys329Tyr). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and tyrosine.

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