ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.9250C>T (p.Arg3084Ter)

dbSNP: rs1356957973
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000595304 SCV000700612 uncertain significance not provided 2017-03-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002377223 SCV002686483 uncertain significance Cardiovascular phenotype 2019-07-12 criteria provided, single submitter clinical testing The p.R3084* variant (also known as c.9250C>T), located in coding exon 65 of the RYR2 gene, results from a C to T substitution at nucleotide position 9250. This changes the amino acid from an arginine to a stop codon within coding exon 65. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. However, loss of function of RYR2 has not been clearly established as a mechanism of disease. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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