ClinVar Miner

Submissions for variant NM_001036.6(RYR3):c.8555G>A (p.Arg2852His)

gnomAD frequency: 0.00265  dbSNP: rs150799181
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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 RCV000538031 SCV000634896 benign Epileptic encephalopathy 2023-12-11 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003222022 SCV003917365 likely benign not provided 2023-03-01 criteria provided, single submitter clinical testing RYR3: BS2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV003222022 SCV003924156 likely benign not provided 2022-04-14 criteria provided, single submitter clinical testing RYR3 NM_001036.4 exon 59 p.Arg2852His (c.8555G>A): This variant has not been reported in the literature but is present in the Genome Aggregation Database (Highest reported MAF 0.8% (349/41440), including 2 homozygotes (https://gnomad.broadinstitute.org/variant/15-33756345-G-A?dataset=gnomad_r3). This variant is present in ClinVar (Variation ID:461970). This variant amino acid Histidine (His) is present in several species including multiple mammals and is not well conserved among evolutionarily distant species; this suggests that this variant may not impact the protein. Additional computational prediction tools do not suggest an impact. In summary, data on this variant suggests that this variant does not cause disease but requires further evidence. Therefore, this variant is classified as likely benign.
PreventionGenetics, part of Exact Sciences RCV003942776 SCV004761886 benign RYR3-related disorder 2020-04-29 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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