ClinVar Miner

Submissions for variant NM_000310.3(PPT1):c.325T>G (p.Tyr109Asp) (rs386833642)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000188711 SCV000242335 pathogenic not provided 2013-08-07 criteria provided, single submitter clinical testing p.Tyr109Asp (TAC>GAC): c.325 T>G in exon 3 of the PPT1 gene (NM_000310.3). The Tyr109Asp mutation has been previously reported in multiple individuals with neuronal ceroid lipofuscinosis (NCL) who harbored a second mutation on the other allele (Das et al., 1998; Kousi et al., 2011). This mutation is a non-conservative amino acid substitution of an uncharged Tyrosine residue with a negatively charged Aspartic acid residue at a position that is conserved across species, and functional studies indicate that it results in significantly impaired enzyme activity (Das et al., 2001). Therefore, Tyr109Asp is considered a disease-causing mutation. The variant is found in EPILEPSY panel(s).
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000049601 SCV000082008 probable-pathogenic Ceroid lipofuscinosis neuronal 1 no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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