ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.181-3A>G

gnomAD frequency: 0.00010  dbSNP: rs371126954
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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) RCV000731431 SCV000859248 uncertain significance not provided 2018-01-19 criteria provided, single submitter clinical testing
Invitae RCV002536462 SCV003274184 uncertain significance Niemann-Pick disease, type C1 2022-07-29 criteria provided, single submitter clinical testing This sequence change falls in intron 2 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 (rs371126954, gnomAD 0.02%). 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: 595785). 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. 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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