ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.3200_3201insATTTT (p.Asp1067fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV004018224 SCV004848848 likely pathogenic Neurofibromatosis, type 1 2022-11-03 criteria provided, single submitter clinical testing The p.Asp1607GlufsX12 variant in NF1 has not been reported in individuals with disease and was absent from large population studies.This variant is predicted to cause a frameshift, which alters the protein’s amino acid sequence beginning at position 1607 and leads to a premature termination codon 12 amino acids downstream. This alteration is then predicted to lead to a truncated or absent protein. Loss of function of the NF1 gene is an established disease mechanism in autosomal dominant neurofibromatosis. In summary, although additional studies are required to fully establish its clinical significance, this variant meets criteria to be classified as likely pathogenic for autosomal dominant neurofibromatosis. ACMG/AMP Criteria applied: PM2_supporting, PVS1.

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