ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.3556del (p.Ile1186fs)

dbSNP: rs2151435407
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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 RCV001353280 SCV005812862 pathogenic Neurofibromatosis, type 1 2024-04-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ile1186Serfs*29) 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 (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with neurofibromatosis type 1 (PMID: 30308447). ClinVar contains an entry for this variant (Variation ID: 1048693). For these reasons, this variant has been classified as Pathogenic.
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV001353280 SCV001548405 pathogenic Neurofibromatosis, type 1 2019-01-01 no assertion criteria provided clinical testing

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