ClinVar Miner

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

dbSNP: rs764142835
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000274023 SCV000344226 uncertain significance not provided 2016-07-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002487273 SCV002785285 uncertain significance Niemann-Pick disease, type C1 2021-08-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002487273 SCV003524513 uncertain significance Niemann-Pick disease, type C1 2022-10-28 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. This variant is present in population databases (rs764142835, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with NPC1-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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