ClinVar Miner

Submissions for variant NM_000310.3(PPT1):c.424C>T (p.Gln142Ter) (rs796052925)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000412210 SCV000486106 likely pathogenic Ceroid lipofuscinosis neuronal 1 2016-03-29 criteria provided, single submitter clinical testing
GeneDx RCV000188715 SCV000242339 pathogenic not provided 2018-10-15 criteria provided, single submitter clinical testing p.Gln142Stop (CAA>TAA): c.424 C>T in exon 4 of the PPT1 gene (NM_000310.3). The Q142X nonsense mutation in the PPT1 gene is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Q142X was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Although this mutation has not been reported previously to our knowledge, Q142X is considered a disease-causing mutation in the PPT1 gene. The variant is found in EPILEPSY panel(s).

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