ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.1828G>A (p.Gly610Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV005275007 SCV005936236 uncertain significance Inborn genetic diseases 2025-01-09 criteria provided, single submitter clinical testing The c.1828G>A (p.G610S) alteration is located in exon 17 (coding exon 17) of the RYR1 gene. This alteration results from a G to A substitution at nucleotide position 1828, causing the glycine (G) at amino acid position 610 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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