ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.4884dup (p.Leu1629fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen RCV003128366 SCV003804239 likely pathogenic Neurofibromatosis-Noonan syndrome criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005099277 SCV005781818 pathogenic Neurofibromatosis, type 1 2024-07-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu1608Thrfs*12) 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 clinical features of NF1-related conditions (PMID: 31776437). ClinVar contains an entry for this variant (Variation ID: 2430240). For these reasons, this variant has been classified as Pathogenic.

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