ClinVar Miner

Submissions for variant NM_001036.6(RYR3):c.10556C>G (p.Thr3519Arg)

gnomAD frequency: 0.00036  dbSNP: rs377288128
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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 RCV000702707 SCV000831572 likely benign Epileptic encephalopathy 2022-08-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV004026605 SCV003710664 uncertain significance not specified 2024-11-19 criteria provided, single submitter clinical testing The c.10556C>G (p.T3519R) alteration is located in exon 75 (coding exon 75) of the RYR3 gene. This alteration results from a C to G substitution at nucleotide position 10556, causing the threonine (T) at amino acid position 3519 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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