ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.6600del (p.Ser2201fs)

dbSNP: rs1135402892
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000497137 SCV004539130 pathogenic Neurofibromatosis, type 1 2023-12-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser2180Profs*17) 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 I (PMID: 28961165). ClinVar contains an entry for this variant (Variation ID: 431677). For these reasons, this variant has been classified as Pathogenic.
Medical Genetics, University of Parma RCV000497137 SCV000588822 likely pathogenic Neurofibromatosis, type 1 2017-02-02 no assertion criteria provided clinical testing

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