Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002533142 | SCV003314649 | uncertain significance | not provided | 2023-06-13 | criteria provided, single submitter | clinical testing | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. ClinVar contains an entry for this variant (Variation ID: 522506). This premature translational stop signal has been observed in individual(s) with pancreatic lipase deficiency (PMID: 35284057). This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Trp419*) in the PNLIP gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in PNLIP cause disease. |
Bioscientia Institut fuer Medizinische Diagnostik Gmb |
RCV000625648 | SCV000746151 | likely pathogenic | Pancreatic triacylglycerol lipase deficiency | 2017-10-06 | no assertion criteria provided | clinical testing |