Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
ARUP Laboratories, |
RCV000506380 | SCV000604563 | uncertain significance | not specified | 2016-10-06 | criteria provided, single submitter | clinical testing | |
Illumina Clinical Services Laboratory, |
RCV000779242 | SCV000915798 | uncertain significance | Niemann-Pick disease type C1 | 2018-11-19 | criteria provided, single submitter | clinical testing | The NPC1 c.2692G>A (p.Asp898Asn) variant has been described in a single study in which it was found in a compound heterozygous state with a frameshift variant in one individual with Niemann-Pick disease (Abela et al. 2014). Control data are unavailable for this variant, which is reported at a frequency of 0.000047 in the European (non-Finnish) population of the Exome Aggregation Consortium. Based on the evidence, the p.Asp898Asn variant is classified as a variant of unknown significance but suspicious for pathogenicity for Niemann-Pick disease, type C. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population. |