ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.5347del (p.Tyr1783fs)

dbSNP: rs1567612415
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000691719 SCV000819509 pathogenic Neurofibromatosis, type 1 2021-08-27 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with NF1-related disease. Loss-of-function variants in NF1 are known to be pathogenic (PMID: 10712197, 23913538). For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Tyr1762Ilefs*11) in the NF1 gene. It is expected to result in an absent or disrupted protein product.
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital RCV004798856 SCV005420507 likely pathogenic Café-au-lait macules with pulmonary stenosis 2024-10-04 criteria provided, single submitter research PVS1,PM2

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