ClinVar Miner

Submissions for variant NM_005609.4(PYGM):c.1466C>G (p.Pro489Arg) (rs398124209)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000081305 SCV000225627 pathogenic not provided 2013-09-20 criteria provided, single submitter clinical testing
GeneDx RCV000081305 SCV000576835 likely pathogenic not provided 2017-04-18 criteria provided, single submitter clinical testing The P489R variant has been reported previously in patients with McArdle disease (Duno et al. 2009; Miteff et al. 2011). The P489R variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The P489R 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. In summary, we interpret P489R as likely pathogenic.

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