ClinVar Miner

Submissions for variant NM_005670.4(EPM2A):c.94T>G (p.Trp32Gly) (rs104893955)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000494425 SCV000582207 likely pathogenic not provided 2015-10-01 criteria provided, single submitter clinical testing The W32G variant has not been previously reported as a homozygous variant in a patient with Lafora disease (Minassian et al., 2000). Functional studies show that W32G is associated with reduced protein stability (Raththagala et al., 2015), reduced phosphatase enzyme activity, and alters glycogen binding (Wang et al., 2004). It was not observed in approximately 260 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The W32G 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 conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.
OMIM RCV000003253 SCV000023411 pathogenic Lafora disease 2002-01-25 no assertion criteria provided literature only

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