ClinVar Miner

Submissions for variant NM_000291.4(PGK1):c.1243A>G (p.Ser415Gly)

gnomAD frequency: 0.00005  dbSNP: rs929302665
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000523916 SCV000618245 uncertain significance not provided 2018-07-19 criteria provided, single submitter clinical testing The S415G variant in the PGK1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The S415G variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The S415G 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 across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret S415G as a variant of uncertain significance
Fulgent Genetics, Fulgent Genetics RCV002476057 SCV002791592 uncertain significance Glycogen storage disease due to phosphoglycerate kinase 1 deficiency 2022-01-03 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000523916 SCV004225677 uncertain significance not provided 2022-11-18 criteria provided, single submitter clinical testing PM2
Labcorp Genetics (formerly Invitae), Labcorp RCV000523916 SCV004618216 likely benign not provided 2023-10-03 criteria provided, single submitter clinical testing

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