ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.2297A>C (p.Tyr766Ser) (rs144016984)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000486923 SCV000568678 pathogenic not provided 2017-03-28 criteria provided, single submitter clinical testing The Y766S variant has been reported previously in patients with Pompe disease (Yonee et al. 2012; Bali et al. 2015). Patients who are homozygous for Y766S are described as having infantile-onset Pompe disease (Bali et al., 2015). The Y766S variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The Y766S variant is a semi-conservative amino acid substitution. This substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. In summary, we interpret Y766S as pathogenic.

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