Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000674434 | SCV000799772 | uncertain significance | Niemann-Pick disease, type C1 | 2018-05-06 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003420194 | SCV004107448 | likely pathogenic | NPC1-related condition | 2023-06-09 | criteria provided, single submitter | clinical testing | The NPC1 c.3592-7_3592-3del5 variant is predicted to result in an intronic deletion. This variant was reported, along with another pathogenic variant in NPC1, in an individual with Niemann-Pick disease, type C. This variant leads to a transcriptional splicing error resulting in the deletion of mRNA exon 24 (Jahnova et al 2014. PubMed ID: 25236789). This variant is reported in 0.0026% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/18-21113483-TAAAAG-T). This variant is interpreted as likely pathogenic. |