ClinVar Miner

Submissions for variant NM_006432.5(NPC2):c.130_131del (p.Thr44fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003510281 SCV004330193 pathogenic Niemann-Pick disease, type C2 2023-10-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr44Profs*24) in the NPC2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in NPC2 are known to be pathogenic (PMID: 25145893). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with NPC2-related conditions. For these reasons, this variant has been classified as Pathogenic.

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