ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.2692G>A (p.Asp898Asn) (rs528841924)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000506380 SCV000604563 uncertain significance not specified 2016-10-06 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina 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.

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