Submissions for variant NM_001036.6(RYR3):c.9254C>G (p.Pro3085Arg)

gnomAD frequency: 0.00307  dbSNP: rs61996335

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000531976	SCV000634910	benign	Epileptic encephalopathy	2023-12-22	criteria provided, single submitter	clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	RCV002060308	SCV002495939	uncertain significance	not provided	2022-01-12	criteria provided, single submitter	clinical testing	RYR3 NM_001036.4 exon 65 p.Pro3085Arg (c.9254C>G): This variant has not been reported in the literature but is present in 0.5% (372/68026) of European alleles including 3 homozygotes in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/15-33780327-C-G?dataset=gnomad_r3). This variant is present in ClinVar classified as a benign variant (Variation ID:461984). Evolutionary conservation suggests that this variant may not impact the protein; computational predictive tools for this variant are unclear. In summary, data on this variant suggests that this variant does not cause disease, but requires further evidence. Therefore, the clinical significance of this variant is uncertain.
CeGaT Center for Human Genetics Tuebingen	RCV002060308	SCV004010347	likely benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	RYR3: BP4, BS2
PreventionGenetics, part of Exact Sciences	RCV003915532	SCV004733432	likely benign	RYR3-related disorder	2021-01-04	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).