ClinVar Miner

Submissions for variant NM_021957.4(GYS2):c.1710T>C (p.Phe570=)

gnomAD frequency: 0.00056  dbSNP: rs149907949
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000426817 SCV000524974 likely benign not specified 2016-03-24 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV003517192 SCV001036839 likely benign Glycogen storage disorder due to hepatic glycogen synthase deficiency 2023-12-02 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003942379 SCV004765209 likely benign GYS2-related disorder 2019-11-15 no assertion criteria provided 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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