ClinVar Miner

Submissions for variant NM_006432.4(NPC2):c.332del (p.Asn111fs) (rs80358265)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000020647 SCV000388521 uncertain significance Niemann-Pick disease, type C2 2017-04-27 criteria provided, single submitter clinical testing The NPC2 c.332delA (p.Asn111IlefsTer5) variant results in a frameshift and is predicted to result in premature termination of the protein. The variant has been reported in one study and was found in a single patient with Niemann-Pick disease type C (NPC2)who was compound heterozygous for the p.Asn111IlefsTer5 variant and a second stop-gained variant (Naureckiene et al. 2000). The variant was also shown to be absent from eight other individuals who represented unaffected controls, patients with NPC1, or patients with other diseases but is reported at a frequency of 0.000921 in the Other population of the Genome Aggregation Database, although this is based on one allele only in a region of good sequence coverage so the variant is assumed to be rare. Based on the evidence and potential impact of frameshift variants, the p.Asn111IlefsTer5 is classified as of uncertain clinical 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.
GeneReviews RCV000020647 SCV000041172 pathologic Niemann-Pick disease, type C2 2008-07-22 no assertion criteria provided curation Converted during submission to Pathogenic.

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