ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.2912-2A>C (rs1555632994)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000525694 SCV000650842 likely pathogenic Niemann-Pick disease type C1 2017-06-09 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 19 of the NPC1 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. While this particular variant has not been reported in the literature, loss-of-function variants in NPC1 are known to be pathogenic (PMID: 19252935). In summary, donor and acceptor splice site variants are typically loss-of-function (PMID: 16199547), and loss-of-function variants in NPC1 are known to be pathogenic. However, without additional functional and/or genetic data, this variant has been classified as Likely Pathogenic.

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