ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.2146C>T (p.Gln716Ter)

dbSNP: rs1454412918
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centogene AG - the Rare Disease Company RCV002284074 SCV002573481 pathogenic Niemann-Pick disease, type C1 2022-08-30 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV002284074 SCV002601895 likely pathogenic Niemann-Pick disease, type C1 2022-03-09 criteria provided, single submitter clinical testing NM_000271.4(NPC1):c.2146C>T(Q716*) 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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