ClinVar Miner

Submissions for variant NM_004130.4(GYG1):c.68G>A (p.Gly23Glu)

gnomAD frequency: 0.00041  dbSNP: rs112622137
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001245239 SCV001418512 uncertain significance Glycogen storage disease XV; Polyglucosan body myopathy type 2 2022-10-13 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 23 of the GYG1 protein (p.Gly23Glu). This variant is present in population databases (rs112622137, gnomAD 0.07%). This variant has not been reported in the literature in individuals affected with GYG1-related conditions. ClinVar contains an entry for this variant (Variation ID: 969811). 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 GYG1 protein function. 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.
Mayo Clinic Laboratories, Mayo Clinic RCV001508506 SCV001714713 uncertain significance not provided 2021-12-27 criteria provided, single submitter clinical testing
GeneDx RCV001508506 SCV001771608 uncertain significance not provided 2020-04-09 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV001245239 SCV002815502 uncertain significance Glycogen storage disease XV; Polyglucosan body myopathy type 2 2021-12-13 criteria provided, single submitter clinical testing

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