ClinVar Miner

Submissions for variant NM_001036.6(RYR3):c.7268C>T (p.Pro2423Leu)

gnomAD frequency: 0.00003  dbSNP: rs747474248
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001051615 SCV001215781 uncertain significance Epileptic encephalopathy 2022-08-23 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. This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 2423 of the RYR3 protein (p.Pro2423Leu). This variant is present in population databases (rs747474248, gnomAD 0.005%). This variant has not been reported in the literature in individuals affected with RYR3-related conditions. ClinVar contains an entry for this variant (Variation ID: 847966). 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 disruptive.

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