ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.9724G>A (p.Asp3242Asn)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
All of Us Research Program, National Institutes of Health RCV004007834 SCV004822590 uncertain significance Malignant hyperthermia, susceptibility to, 1 2023-06-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV004953674 SCV005496931 uncertain significance Inborn genetic diseases 2024-11-21 criteria provided, single submitter clinical testing The c.9724G>A (p.D3242N) alteration is located in exon 66 (coding exon 66) of the RYR1 gene. This alteration results from a G to A substitution at nucleotide position 9724, causing the aspartic acid (D) at amino acid position 3242 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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