ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.3026_3027del (p.Pro1009fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV002308268 SCV002601962 likely pathogenic Niemann-Pick disease, type C1 2022-03-14 criteria provided, single submitter clinical testing NM_000271.4(NPC1):c.3026_3027delCC(P1009Qfs*11) is expected to be pathogenic in the context of Niemann-Pick disease type C1. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in NPC1, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening.

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