ClinVar Miner

Submissions for variant NM_005609.4(PYGM):c.8G>A (p.Arg3Gln) (rs374812974)

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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 RCV000726186 SCV000342722 uncertain significance not provided 2016-07-15 criteria provided, single submitter clinical testing
GeneDx RCV000726186 SCV000620765 uncertain significance not provided 2017-09-07 criteria provided, single submitter clinical testing The R3Q variant in the PYGM gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. Although the R3Q variant is not observed at a significant frequency in large population cohorts, this variant is observed in the homozygous state in a presumably unaffected individual undergoing testing at GeneDx (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The R3Q variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is not conserved. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret R3Q as a variant of uncertain significance.

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