Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000410702 | SCV000485432 | likely pathogenic | Niemann-Pick disease, type C1 | 2016-09-09 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000733999 | SCV000862107 | likely pathogenic | not provided | 2018-06-30 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000410702 | SCV001586303 | pathogenic | Niemann-Pick disease, type C1 | 2024-01-21 | criteria provided, single submitter | clinical testing | This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 825 of the NPC1 protein (p.Tyr825Cys). This variant is present in population databases (rs550562774, gnomAD 0.003%). This missense change has been observed in individual(s) with Niemann-Pick type C (PMID: 11349231, 16126423, 23433426, 27581084). ClinVar contains an entry for this variant (Variation ID: 370184). 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 NPC1 protein function with a positive predictive value of 95%. For these reasons, this variant has been classified as Pathogenic. |
Ai |
RCV000733999 | SCV002502652 | likely pathogenic | not provided | 2022-03-24 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000410702 | SCV003815187 | likely pathogenic | Niemann-Pick disease, type C1 | 2022-09-28 | criteria provided, single submitter | clinical testing | |
Diagnostic Laboratory, |
RCV000733999 | SCV001740521 | pathogenic | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics, |
RCV000733999 | SCV001919623 | pathogenic | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000733999 | SCV001966719 | likely pathogenic | not provided | no assertion criteria provided | clinical testing |