ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.7544del (p.Ser2515fs)

dbSNP: rs2070170648
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001290844 SCV001479047 pathogenic Neurofibromatosis, type 1 2020-10-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001290844 SCV002214779 pathogenic Neurofibromatosis, type 1 2021-01-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser2494Ilefs*8) in the NF1 gene. It is expected to result in an absent or disrupted protein product. 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 variant has not been reported in the literature in individuals with NF1-related conditions. For these reasons, this variant has been classified as Pathogenic.
Genome-Nilou Lab RCV001290844 SCV002560578 pathogenic Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing

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