ClinVar Miner

Submissions for variant NM_001036.6(RYR3):c.1067A>G (p.Gln356Arg)

gnomAD frequency: 0.00022  dbSNP: rs753622466
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000816966 SCV000957498 uncertain significance Epileptic encephalopathy 2022-09-06 criteria provided, single submitter clinical testing 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. ClinVar contains an entry for this variant (Variation ID: 659884). This variant has not been reported in the literature in individuals affected with RYR3-related conditions. This variant is present in population databases (rs753622466, gnomAD 0.07%), and has an allele count higher than expected for a pathogenic variant. This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 356 of the RYR3 protein (p.Gln356Arg). 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.
Ambry Genetics RCV004028902 SCV003940561 uncertain significance not specified 2023-03-31 criteria provided, single submitter clinical testing The c.1067A>G (p.Q356R) alteration is located in exon 11 (coding exon 11) of the RYR3 gene. This alteration results from a A to G substitution at nucleotide position 1067, causing the glutamine (Q) at amino acid position 356 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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