ClinVar Miner

Submissions for variant NM_001036.6(RYR3):c.12550C>T (p.Leu4184Phe)

dbSNP: rs1414118993
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001341481 SCV001535358 uncertain significance Epileptic encephalopathy 2022-11-01 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 phenylalanine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 1038207). This variant has not been reported in the literature in individuals affected with RYR3-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 4184 of the RYR3 protein (p.Leu4184Phe).
CeGaT Center for Human Genetics Tuebingen RCV003883611 SCV004698662 uncertain significance not provided 2024-02-01 criteria provided, single submitter clinical testing RYR3: PM2, BP4

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