ClinVar Miner

Submissions for variant NM_001036.6(RYR3):c.13258G>A (p.Val4420Ile)

gnomAD frequency: 0.00001  dbSNP: rs2078517547
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001337488 SCV001531091 uncertain significance Epileptic encephalopathy 2021-09-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002546817 SCV003545660 uncertain significance Inborn genetic diseases 2022-03-23 criteria provided, single submitter clinical testing The c.13258G>A (p.V4420I) alteration is located in exon 92 (coding exon 92) of the RYR3 gene. This alteration results from a G to A substitution at nucleotide position 13258, causing the valine (V) at amino acid position 4420 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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