ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.12910G>A (p.Ala4304Thr)

gnomAD frequency: 0.00004  dbSNP: rs959143903
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001587938 SCV001817288 uncertain significance not provided 2020-11-25 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV002488430 SCV002778314 uncertain significance Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital multicore myopathy with external ophthalmoplegia; Congenital myopathy with fiber type disproportion; King Denborough syndrome 2021-08-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV002579471 SCV003652789 uncertain significance Inborn genetic diseases 2022-10-26 criteria provided, single submitter clinical testing The c.12910G>A (p.A4304T) alteration is located in exon 91 (coding exon 91) of the RYR1 gene. This alteration results from a G to A substitution at nucleotide position 12910, causing the alanine (A) at amino acid position 4304 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV001587938 SCV004236866 uncertain significance not provided 2023-07-25 criteria provided, single submitter clinical testing

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