ClinVar Miner

Submissions for variant NM_001036.6(RYR3):c.10698G>A (p.Thr3566=)

gnomAD frequency: 0.00163  dbSNP: rs200309704
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000637279 SCV000758727 benign Epileptic encephalopathy 2023-11-04 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV002060736 SCV002495940 uncertain significance not provided 2022-02-03 criteria provided, single submitter clinical testing RYR3 NM_001036.3 exon 76 p.Thr3566= (c.10698G>A): This variant has not been reported in the literature but is present in 0.4% (204/41430) of African alleles, including 1 homozygote in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/15-33818676-G-A?dataset=gnomad_r3). This variant is present in ClinVar (Variation ID:531169). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. Of note, this variant is a silent variant and does not change the amino acid, reducing the probability that this variant is disease causing. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
CeGaT Center for Human Genetics Tuebingen RCV002060736 SCV004136275 likely benign not provided 2022-07-01 criteria provided, single submitter clinical testing RYR3: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003965341 SCV004779854 likely benign RYR3-related disorder 2022-07-20 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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