Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000480939 | SCV000567580 | pathogenic | not provided | 2015-08-13 | criteria provided, single submitter | clinical testing | The c.3734_3735delCT deletion in the NPC1 gene has been reported previously in association with Niemann-Pick disease, type C (Tarugi et al., 2002; Zhang et al., 2014; Yang et al., 2015). The deletion causes a frameshift starting with codon Proline 1245, changes this amino acid to an Arginine residue and creates a premature Stop codon at position 12 of the new reading frame, denoted p.Pro1245ArgfsX12. This variant is predicted to cause loss of normal protein function through protein truncation. Therefore, we interpret c.3734_3735delCT in NPC1 as a pathogenic variant. |
Eurofins Ntd Llc |
RCV000480939 | SCV000706895 | likely pathogenic | not provided | 2017-03-20 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000984201 | SCV001589683 | pathogenic | Niemann-Pick disease, type C1 | 2024-01-14 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Pro1245Argfs*12) in the NPC1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 34 amino acid(s) of the NPC1 protein. This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Niemann-Pick Type C (PMID: 12401890, 23597521, 24915861). ClinVar contains an entry for this variant (Variation ID: 419641). For these reasons, this variant has been classified as Pathogenic. |
Counsyl | RCV000984201 | SCV001132260 | likely pathogenic | Niemann-Pick disease, type C1 | 2015-04-27 | no assertion criteria provided | clinical testing | |
Natera, |
RCV000984201 | SCV002095154 | pathogenic | Niemann-Pick disease, type C1 | 2020-09-04 | no assertion criteria provided | clinical testing |