ClinVar Miner

Submissions for variant NM_001036.6(RYR3):c.3419G>A (p.Arg1140His)

gnomAD frequency: 0.00003  dbSNP: rs774751337
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000545273 SCV000634828 likely benign Epileptic encephalopathy 2023-07-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV004023874 SCV003865229 uncertain significance not specified 2023-03-02 criteria provided, single submitter clinical testing The c.3419G>A (p.R1140H) alteration is located in exon 27 (coding exon 27) of the RYR3 gene. This alteration results from a G to A substitution at nucleotide position 3419, causing the arginine (R) at amino acid position 1140 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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