ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.5515_5516del (p.Ile1839fs)

dbSNP: rs2151541621
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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 RCV001906555 SCV002168835 pathogenic Neurofibromatosis, type 1 2021-03-25 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individual(s) with neurofibromatosis type 1 (PMID:25520849). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ile1818Profs*22) 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).

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