ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.3635T>C (p.Met1212Thr)

gnomAD frequency: 0.00002  dbSNP: rs779439947
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000539077 SCV000626732 uncertain significance Glycogen storage disease type III 2023-08-27 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 1212 of the AGL protein (p.Met1212Thr). This variant is present in population databases (rs779439947, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with AGL-related conditions. ClinVar contains an entry for this variant (Variation ID: 456491). 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 AGL 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003330750 SCV004037758 uncertain significance not specified 2023-08-30 criteria provided, single submitter clinical testing
Baylor Genetics RCV000539077 SCV004040956 uncertain significance Glycogen storage disease type III 2023-03-27 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000539077 SCV004050057 uncertain significance Glycogen storage disease type III 2023-04-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV000539077 SCV002094546 uncertain significance Glycogen storage disease type III 2019-10-28 no assertion criteria provided clinical testing

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