Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001854251 | SCV002302896 | likely pathogenic | not provided | 2022-05-27 | 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt TPP1 protein function. ClinVar contains an entry for this variant (Variation ID: 68736). This variant is also known as 5159T>A. This missense change has been observed in individual(s) with neuronal ceroid lipofuscinosis (PMID: 10330339). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces valine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 385 of the TPP1 protein (p.Val385Asp). |
| Uni |
RCV000059618 | SCV000091184 | not provided | Neuronal ceroid lipofuscinosis 2 | no assertion provided | not provided |