ClinVar Miner

Submissions for variant NM_000391.4(TPP1):c.833A>G (p.Gln278Arg) (rs796053439)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000189774 SCV000243422 pathogenic not provided 2013-02-21 criteria provided, single submitter clinical testing p.Gln278Arg (Q278R) CAG>CGG: c.833 A>G in exon 7 of the TPP1 gene (NM_000391.3)The Q278R missense mutation in the TPP1 gene has been reported previously in two siblings with myoclonicastatic epilepsy and abnormal TPP1 enzyme analysis who had a second disease-causing mutation on the other allele (Lemke et al., 2012). Additionally, a different missense substitution at the same codon, Q278P, has been reported as a disease-causing mutation in a patient with electron microscopy findings consistent with neuronal ceroid lipofuscinosis (Ju et al., 2002). The Q278R amino acid substitution is non-conservative, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. Therefore, Q278R is considered to be a disease-causing mutation. The variant is found in CHILD-EPI,PME-EPI panel(s).
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV000209853 SCV000265552 pathogenic Ceroid lipofuscinosis neuronal 2 2015-02-10 criteria provided, single submitter research
Counsyl RCV000209853 SCV000798809 likely pathogenic Ceroid lipofuscinosis neuronal 2 2018-03-27 criteria provided, single submitter clinical testing

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