ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.5314A>G (p.Arg1772Gly)

gnomAD frequency: 0.00001  dbSNP: rs1568484835
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000721586 SCV000852680 uncertain significance not provided 2013-11-20 criteria provided, single submitter clinical testing
Invitae RCV001036189 SCV001199540 pathogenic RYR1-related disorder 2023-07-09 criteria provided, single submitter clinical testing Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on RYR1 protein function. For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Arg1772 amino acid residue in RYR1. Other variant(s) that disrupt this residue have been observed in individuals with RYR1-related conditions (Invitae), which suggests that this may be a clinically significant amino acid residue. ClinVar contains an entry for this variant (Variation ID: 590557). This missense change has been observed in individual(s) with autosomal recessive neonatal-onset myopathy (PMID: 23553484). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 1772 of the RYR1 protein (p.Arg1772Gly).
Fulgent Genetics, Fulgent Genetics RCV002493289 SCV002785199 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 2021-10-06 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000721586 SCV003810514 uncertain significance not provided 2019-11-21 criteria provided, single submitter clinical testing

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