Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
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). |
Counsyl | RCV000412210 | SCV000486106 | likely pathogenic | Neuronal ceroid lipofuscinosis 1 | 2016-03-29 | criteria provided, single submitter | clinical testing |