ClinVar Miner

Submissions for variant NM_006432.4(NPC2):c.191-1_193del (rs1555345873)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670585 SCV000795455 likely pathogenic Niemann-Pick disease, type C2 2017-11-08 criteria provided, single submitter clinical testing
Invitae RCV000670585 SCV001407618 likely pathogenic Niemann-Pick disease, type C2 2019-10-29 criteria provided, single submitter clinical testing This variant results in the deletion of part of exon 3 (c.191-1_193del) of the NPC2 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with NPC2-related conditions. ClinVar contains an entry for this variant (Variation ID: 554877). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. Loss-of-function variants in NPC2 are known to be pathogenic (PMID: 25145893). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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