ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.3591+4del

gnomAD frequency: 0.00001  dbSNP: rs794727371
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000176358 SCV000227999 uncertain significance not provided 2014-12-04 criteria provided, single submitter clinical testing
Invitae RCV001386022 SCV001586103 pathogenic Niemann-Pick disease, type C1 2024-01-02 criteria provided, single submitter clinical testing This sequence change falls in intron 23 of the NPC1 gene. It does not directly change the encoded amino acid sequence of the NPC1 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs794727371, gnomAD 0.002%). This variant has been observed in individual(s) with Niemann-Pick Type C (PMID: 26666848, 28710748). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 195722). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.

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