ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.6050A>G (p.Asp2017Gly)

gnomAD frequency: 0.00003  dbSNP: rs1302216965
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001248601 SCV001422100 uncertain significance RYR1-Related Disorders 2022-08-24 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 2017 of the RYR1 protein (p.Asp2017Gly). This variant is present in population databases (no rsID available, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with RYR1-related conditions. ClinVar contains an entry for this variant (Variation ID: 972545). 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) performed at Invitae indicates that this missense variant is not expected to disrupt RYR1 protein function. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV002480858 SCV002788759 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 2021-07-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV003365292 SCV004064052 uncertain significance Inborn genetic diseases 2023-09-14 criteria provided, single submitter clinical testing The c.6050A>G (p.D2017G) alteration is located in exon 37 (coding exon 37) of the RYR1 gene. This alteration results from a A to G substitution at nucleotide position 6050, causing the aspartic acid (D) at amino acid position 2017 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003490158 SCV004236860 uncertain significance not provided 2023-06-30 criteria provided, single submitter clinical testing

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