ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.3478-6T>A

dbSNP: rs1376131980
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000996655 SCV001151483 uncertain significance not provided 2017-05-01 criteria provided, single submitter clinical testing
Invitae RCV002549944 SCV003312967 uncertain significance Niemann-Pick disease, type C1 2022-02-12 criteria provided, single submitter clinical testing This sequence change falls in intron 22 of the NPC1 gene. It does not directly change the encoded amino acid sequence of the NPC1 protein. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with NPC1-related conditions. ClinVar contains an entry for this variant (Variation ID: 808371). 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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