ClinVar Miner

Submissions for variant NM_001036.6(RYR3):c.5609C>A (p.Pro1870Gln)

dbSNP: rs753308511
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001236630 SCV001409362 uncertain significance Epileptic encephalopathy 2021-12-01 criteria provided, single submitter clinical testing The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces proline, which is neutral and non-polar, with glutamine, which is neutral and polar, at codon 1870 of the RYR3 protein (p.Pro1870Gln). This variant has not been reported in the literature in individuals affected with RYR3-related conditions. 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 disruptive. ClinVar contains an entry for this variant (Variation ID: 962723).

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