ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.2965_2966del (p.Arg989fs)

dbSNP: rs1555632977
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671266 SCV000796223 likely pathogenic Niemann-Pick disease, type C1 2017-12-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000671266 SCV002174679 pathogenic Niemann-Pick disease, type C1 2023-03-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg989Alafs*17) in the NPC1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in NPC1 are known to be pathogenic (PMID: 9211850). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Niemann-Pick type C (PMID: 10521290). This variant is also known as delAG (2963–2964). ClinVar contains an entry for this variant (Variation ID: 555442). For these reasons, this variant has been classified as Pathogenic.

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