ClinVar Miner

Submissions for variant NM_001036.6(RYR3):c.6799G>A (p.Val2267Ile)

dbSNP: rs2068053416
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001066147 SCV001231147 uncertain significance Epileptic encephalopathy 2019-12-30 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The isoleucine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. 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 not present in population databases (ExAC no frequency). This sequence change replaces valine with isoleucine at codon 2267 of the RYR3 protein (p.Val2267Ile). The valine residue is moderately conserved and there is a small physicochemical difference between valine and isoleucine.
GenomeConnect - Invitae Patient Insights Network RCV003483772 SCV004228677 not provided not provided no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 12-31-2019 by Lab Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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