ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.6777del (p.Ser2260fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
St. Jude Molecular Pathology, St. Jude Children's Research Hospital RCV003230319 SCV003928036 pathogenic Neurofibromatosis, type 1 2023-05-08 criteria provided, single submitter clinical testing The NF1 c.6714del (p.Ser2239LeufsTer5) change deletes 1 nucleotide in exon 44 of the NF1 gene to cause a frameshift and the creation of a premature stop codon. This change is predicted to cause protein truncation or absence of the protein due to nonsense-mediated decay. This variant is absent in gnomAD v2.1.1 (https://gnomad.broadinstitute.org/). This variant has been observed in individuals with neurofibromatosis type 1 (internal data). Loss-of-function variants in NF1 are known to be pathogenic (PMID: 9003501, 10712197). In summary, this variant meets criteria to be classified as pathogenic.
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003230319 SCV004806282 uncertain significance Neurofibromatosis, type 1 2024-03-25 criteria provided, single submitter clinical testing

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