ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.2990G>A (p.Arg997Gln)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004962609 SCV005496877 uncertain significance Inborn genetic diseases 2024-08-20 criteria provided, single submitter clinical testing The c.2990G>A (p.R997Q) alteration is located in exon 24 (coding exon 24) of the RYR1 gene. This alteration results from a G to A substitution at nucleotide position 2990, causing the arginine (R) at amino acid position 997 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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