ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.9989A>G (p.Asp3330Gly)

gnomAD frequency: 0.00001  dbSNP: rs529012478
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000721763 SCV000852898 uncertain significance not provided 2018-08-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002493292 SCV002782768 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 2021-10-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV003353006 SCV004077789 uncertain significance Inborn genetic diseases 2023-06-26 criteria provided, single submitter clinical testing The c.9989A>G (p.D3330G) alteration is located in exon 66 (coding exon 66) of the RYR1 gene. This alteration results from an A to G substitution at nucleotide position 9989, causing the aspartic acid (D) at amino acid position 3330 to be replaced by a glycine (G). Based on data from gnomAD, the G allele has an overall frequency of <0.001% (1/248926) total alleles studied. The highest observed frequency was 0.001% (1/111280) of European (non-Finnish) alleles. This amino acid position is highly conserved in available vertebrate species. The in silico prediction for this alteration is inconclusive. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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