ClinVar Miner

Submissions for variant NM_002863.5(PYGL):c.2071G>A (p.Gly691Arg)

dbSNP: rs539898848
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV002248145 SCV002519243 uncertain significance not specified 2022-05-04 criteria provided, single submitter clinical testing
Neuberg Centre For Genomic Medicine, NCGM RCV003339941 SCV004047397 uncertain significance Glycogen storage disease, type VI criteria provided, single submitter clinical testing The missense variant c.2071G>A (p.Gly691Arg) in PYGL gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Gly691Arg variant is novel (not in any individuals) in 1000 Genomes and allele frequency of 0.001061% is reported in gnomAD. The amino acid Gly at position 691 is changed to a Arg changing protein sequence and it might alter its composition and physico-chemical properties. The amino acid change p.Gly691Arg in PYGL is predicted as conserved by GERP++ and PhyloP across 100 vertebrates.For these reasons, this variant has been classified as Uncertain Significance.

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