ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.3764A>G (p.Asn1255Ser)

gnomAD frequency: 0.00159  dbSNP: rs138134718
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000556035 SCV000626739 likely benign Glycogen storage disease type III 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001591194 SCV001814288 uncertain significance not provided 2023-03-27 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
Genome-Nilou Lab RCV000556035 SCV002055548 likely benign Glycogen storage disease type III 2021-07-15 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001591194 SCV004227877 uncertain significance not provided 2023-02-16 criteria provided, single submitter clinical testing BS1, PP3
PreventionGenetics, part of Exact Sciences RCV003905330 SCV004722628 likely benign AGL-related condition 2019-08-12 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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