ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.3940dup (p.Trp1314fs)

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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 RCV003598142 SCV004539127 pathogenic Neurofibromatosis, type 1 2023-12-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp1314Leufs*5) 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 variant has not been reported in the literature in individuals affected with NF1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1801592). For these reasons, this variant has been classified as Pathogenic.
Laboratory for Genotyping Development, RIKEN RCV003164627 SCV002758305 pathogenic Gastric cancer 2021-07-01 no assertion criteria provided research

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