Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Counsyl | RCV000670860 | SCV000795772 | likely pathogenic | Neuronal ceroid lipofuscinosis 2 | 2017-11-22 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV001379972 | SCV001577888 | likely pathogenic | not provided | 2020-03-19 | criteria provided, single submitter | clinical testing | In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in TPP1 are known to be pathogenic (PMID: 10330339). Splice acceptor variants have been observed in individual(s) with neuronal ceroid lipofuscinoses (PMID: 12125808). ClinVar contains an entry for this variant (Variation ID: 555109). This variant is not present in population databases (ExAC no frequency). This sequence change affects an acceptor splice site in intron 8 of the TPP1 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. |
| Revvity Omics, |
RCV001379972 | SCV003820424 | pathogenic | not provided | 2022-09-20 | criteria provided, single submitter | clinical testing |