ClinVar Miner

Submissions for variant NM_198586.3(NHLRC1):c.76T>A (p.Cys26Ser) (rs28940575)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000483691 SCV000568262 pathogenic not provided 2017-03-15 criteria provided, single submitter clinical testing The C26S variant in the NHLRC1 gene has been reported previously as a homozgyous change in multiple French Canadian families with Lafora disease and is thought to be a founder mutation (Chan et al., 2003; Jansen and Andermann, 2015). Functional studies suggest that C26S results in aggregates of NHLRC1 protein that lead to cell death (Gentry et al., 2005; Roa et al., 2010). The C26S variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The C26S 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. Therefore, the C26S variant is considered to be pathogenic.
OMIM RCV000002704 SCV000022862 pathogenic Epilepsy, progressive myoclonic 2b 2006-09-01 no assertion criteria provided literature only
GeneReviews RCV000192025 SCV000196905 pathogenic Lafora disease 2015-01-22 no assertion criteria provided literature only

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