ClinVar Miner

Submissions for variant NM_002103.5(GYS1):c.1157G>A (p.Arg386His)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003121262 SCV003785588 uncertain significance Glycogen storage disease due to muscle and heart glycogen synthase deficiency 2022-11-29 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 386 of the GYS1 protein (p.Arg386His). 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 sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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 GYS1 protein function. This variant has not been reported in the literature in individuals affected with GYS1-related conditions. This variant is present in population databases (rs566356663, gnomAD 0.006%).

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