ClinVar Miner

Submissions for variant NM_005609.4(PYGM):c.981C>T (p.Phe327=)

gnomAD frequency: 0.00016  dbSNP: rs146289842
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000426472 SCV000530444 likely benign not specified 2017-11-09 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.
Invitae RCV002063405 SCV002322356 likely benign Glycogen storage disease, type V 2023-11-24 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003392249 SCV004132340 likely benign not provided 2023-05-01 criteria provided, single submitter clinical testing PYGM: BP4, BP7

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