ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.3592-7_3592-3del

dbSNP: rs760935117
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674434 SCV000799772 uncertain significance Niemann-Pick disease, type C1 2018-05-06 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003420194 SCV004107448 likely pathogenic NPC1-related condition 2023-06-09 criteria provided, single submitter clinical testing The NPC1 c.3592-7_3592-3del5 variant is predicted to result in an intronic deletion. This variant was reported, along with another pathogenic variant in NPC1, in an individual with Niemann-Pick disease, type C. This variant leads to a transcriptional splicing error resulting in the deletion of mRNA exon 24 (Jahnova et al 2014. PubMed ID: 25236789). This variant is reported in 0.0026% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/18-21113483-TAAAAG-T). This variant is interpreted as likely pathogenic.

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