ClinVar Miner

Submissions for variant NM_005609.4(PYGM):c.1345G>A (p.Gly449Arg) (rs769172044)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000657906 SCV000779671 likely pathogenic not provided 2018-05-09 criteria provided, single submitter clinical testing The G449R variant has been reported in two individuals with glycogen storage disease type V (GSD V) who also harbored the R50X pathogenic variant (Aquaron et al., 2007; Duno et al., 2009). The G449R variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). The G449R 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. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. In summary, we interpret this variant as likely pathogenic.

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