ClinVar Miner

Submissions for variant NM_000271.4(NPC1):c.3234_3237dupATTT (rs863224902)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000531610 SCV000650845 pathogenic Niemann-Pick disease type C1 2017-03-08 criteria provided, single submitter clinical testing This sequence change inserts 4 nucleotide in exon 21 of the NPC1 mRNA (c.3234_3237dupATTT), causing a frameshift at codon 1080. This creates a premature translational stop signal (p.Pro1080Ilefs*18) and is expected to result in an absent or disrupted protein product. Loss-of-function variants in NPC1 are known to be pathogenic. This particular variant has been reported in an individual affected with NPC1 presenting liver failure and hepatitis (PMID: 25326637). For these reasons, this variant has been classified as Pathogenic.

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