ClinVar Miner

Submissions for variant NM_021957.4(GYS2):c.526G>A (p.Val176Ile)

gnomAD frequency: 0.00010  dbSNP: rs752277622
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000912120 SCV001057209 likely benign Glycogen storage disorder due to hepatic glycogen synthase deficiency 2022-10-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV002540838 SCV003644107 likely benign Inborn genetic diseases 2022-08-17 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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