ClinVar Miner

Submissions for variant NM_005609.4(PYGM):c.61G>A (p.Gly21Ser) (rs145881639)

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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 RCV000726775 SCV000702957 uncertain significance not provided 2016-11-16 criteria provided, single submitter clinical testing
GeneDx RCV000726775 SCV000570715 uncertain significance not provided 2019-01-14 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the PYGM gene. The G21S variant has been previously identified as a single heterozygous variant in an individual with fatal congenital nonlysosomal cardiac glycogenosis, who did not have features of NMD and harbored a pathogenic variant in another gene that explained the phenotype (Burwinkel et al.,2005). The G21S variant is observed in 39/66682 (0.6%) alleles from individuals of European background (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. However, the G21S 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. Additionally, this substitution occurs at a position that is conserved across species. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.

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