ClinVar Miner

Submissions for variant NM_001036.6(RYR3):c.12886C>A (p.Pro4296Thr)

gnomAD frequency: 0.00003  dbSNP: rs369559898
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001339735 SCV001533501 uncertain significance Epileptic encephalopathy 2020-08-20 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with RYR3-related conditions. This variant is present in population databases (rs369559898, ExAC 0.01%). This sequence change replaces proline with threonine at codon 4296 of the RYR3 protein (p.Pro4296Thr). The proline residue is moderately conserved and there is a small physicochemical difference between proline and threonine.

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