ClinVar Miner

Submissions for variant NM_005609.4(PYGM):c.517G>A (p.Gly173Arg)

dbSNP: rs141265458
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000523818 SCV000617959 uncertain significance not provided 2017-07-26 criteria provided, single submitter clinical testing The G173R variant in the PYGM gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The G173R variant is observed in 17/10398 (0.16%) alleles from individuals of African background in the ExAC dataset (Lek et al., 2016). The G173R variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved in mammals. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret G173R as a variant of uncertain significance.
Invitae RCV000812757 SCV000953080 likely benign Glycogen storage disease, type V 2024-01-25 criteria provided, single submitter clinical testing
Revvity Omics, Revvity Omics RCV000812757 SCV003810417 uncertain significance Glycogen storage disease, type V 2023-03-13 criteria provided, single submitter clinical testing
Natera, Inc. RCV000812757 SCV002092345 uncertain significance Glycogen storage disease, type V 2019-10-28 no assertion criteria provided clinical testing

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