ClinVar Miner

Submissions for variant NM_001036.6(RYR3):c.11815A>G (p.Ile3939Val)

gnomAD frequency: 0.00016  dbSNP: rs369140231
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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 RCV000637109 SCV000758557 likely benign Epileptic encephalopathy 2024-11-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV004659136 SCV005158876 uncertain significance not specified 2024-05-26 criteria provided, single submitter clinical testing The c.11815A>G (p.I3939V) alteration is located in exon 89 (coding exon 89) of the RYR3 gene. This alteration results from a A to G substitution at nucleotide position 11815, causing the isoleucine (I) at amino acid position 3939 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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