Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000020646 | SCV001406857 | pathogenic | Niemann-Pick disease, type C2 | 2019-11-12 | criteria provided, single submitter | clinical testing | This sequence change replaces cysteine with arginine at codon 99 of the NPC2 protein (p.Cys99Arg). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and arginine. This variant is present in population databases (rs80358264, ExAC 0.01%). This variant has been observed to be homozygous in several individuals affected with Niemann-Pick Type C (PMID: 22676771, 15937921). ClinVar contains an entry for this variant (Variation ID: 21458). This variant has been reported to affect NPC2 protein function (PMID: 15937921). For these reasons, this variant has been classified as Pathogenic. |
Gene |
RCV000020646 | SCV000041171 | pathologic | Niemann-Pick disease, type C2 | 2008-07-22 | no assertion criteria provided | curation | Converted during submission to Pathogenic. |