ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.7415del (p.Pro2472fs)

dbSNP: rs1597859768
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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 RCV000821016 SCV000961755 pathogenic Neurofibromatosis, type 1 2019-10-18 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in NF1 are known to be pathogenic (PMID: 10712197, 23913538). This variant has been reported in individuals in the Leiden Open-source Variation Database (PMID: 21520333). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Pro2451Leufs*17) in the NF1 gene. It is expected to result in an absent or disrupted protein product.

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