ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.2131-14_2131-4del

dbSNP: rs11299077
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000521805 SCV000620580 uncertain significance not provided 2017-08-29 criteria provided, single submitter clinical testing The c.2131-14_2131-4del11 variant in the NPC1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. This variant is predicted to destroy the splice acceptor site in intron 13, and is expected to cause abnormal gene splicing. However, in the absence of RNA/functional studies, the actual effect of c.2131-14_2131-4del11 in this individual is unknown. The c.2131-14_2131-4del11 variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret c.2131-14_2131-4del11 as a variant of uncertain significance.

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