ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.1274G>A (p.Trp425Ter)

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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 RCV003064416 SCV003442609 pathogenic Neurofibromatosis, type 1 2024-08-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp425*) 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: 15060124). ClinVar contains an entry for this variant (Variation ID: 2137959). For these reasons, this variant has been classified as Pathogenic.
Laboratory of Urology, Hospital Clinic de Barcelona RCV003332399 SCV004040616 pathogenic Malignant tumor of urinary bladder no assertion criteria provided research

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