ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.9082G>A (p.Gly3028Ser)

gnomAD frequency: 0.00004  dbSNP: rs548280516
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000800841 SCV000940580 likely benign RYR1-related disorder 2024-02-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV004028040 SCV004943172 uncertain significance Inborn genetic diseases 2023-12-16 criteria provided, single submitter clinical testing The c.9082G>A (p.G3028S) alteration is located in exon 60 (coding exon 60) of the RYR1 gene. This alteration results from a G to A substitution at nucleotide position 9082, causing the glycine (G) at amino acid position 3028 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
All of Us Research Program, National Institutes of Health RCV004803228 SCV005425176 likely benign Malignant hyperthermia, susceptibility to, 1 2024-08-23 criteria provided, single submitter clinical testing

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