ClinVar Miner

Submissions for variant NM_001036.6(RYR3):c.5357G>A (p.Gly1786Asp)

gnomAD frequency: 0.00007  dbSNP: rs200938517
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001315410 SCV001505983 uncertain significance Epileptic encephalopathy 2020-08-27 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with RYR3-related conditions. This variant is present in population databases (rs200938517, ExAC 0.04%). This sequence change replaces glycine with aspartic acid at codon 1786 of the RYR3 protein (p.Gly1786Asp). The glycine residue is weakly conserved and there is a moderate physicochemical difference between glycine and aspartic acid.
Ambry Genetics RCV004034351 SCV003536412 uncertain significance not specified 2025-01-20 criteria provided, single submitter clinical testing The c.5357G>A (p.G1786D) alteration is located in exon 35 (coding exon 35) of the RYR3 gene. This alteration results from a G to A substitution at nucleotide position 5357, causing the glycine (G) at amino acid position 1786 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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