ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.7325del (p.Leu2442fs)

dbSNP: rs1597859558
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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 RCV001056232 SCV001220664 pathogenic Neurofibromatosis, type 1 2019-11-19 criteria provided, single submitter clinical testing This variant has been observed in individual(s) with clinical features of neurofibromatosis type 1 (PMID: 7655472). This variant is also known as 7260delT in the literature. 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 is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Leu2421Tyrfs*14) in the NF1 gene. It is expected to result in an absent or disrupted protein product.

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