ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.848+8G>C

gnomAD frequency: 0.00006  dbSNP: rs373075790
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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 RCV001102206 SCV000760720 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2025-01-28 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001102205 SCV001258860 uncertain significance Arrhythmogenic right ventricular dysplasia 2 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Illumina Laboratory Services, Illumina RCV001102206 SCV001258861 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 1 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Phosphorus, Inc. RCV001823741 SCV002073432 likely benign not specified 2022-01-14 criteria provided, single submitter clinical testing This variant is located 8bp away from the canonical splice-site in intron 11 of the RYR2 gene (transcript: NM_001035.2). This variant has an entry in ClinVar (532404) NM_001035.3(RYR2):c.848+8G>C. This variant occurred in gnomAD with a total MAF of 0.0061% and the highest MAF of 0.0090% in the European population. This position is not conserved. In silico splicing algorithms predicted that this variant will not have an impact on splicing (dbscSNV= 0.002). The variant has not occurred in the literature in association with disease. Considering the evidence above, it has been classified as Likely Benign.

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