ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.6372_6373del (p.Leu2125fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004766654 SCV005381592 pathogenic Neurofibromatosis, type 1 2024-08-02 criteria provided, single submitter clinical testing Variant summary: NF1 c.6309_6310delAC (p.Leu2104GlyfsX3) results in a premature termination codon, predicted to cause absence of the protein due to nonsense mediated decay, which is a commonly known mechanism for disease. The variant was absent in 250992 control chromosomes (gnomAD). To our knowledge, no occurrence of c.6309_6310delAC in individuals affected with Neurofibromatosis Type 1 and no experimental evidence demonstrating its impact on protein function have been reported. No submitters have cited clinical-significance assessments for this variant to ClinVar. Based on the evidence outlined above, the variant was classified as pathogenic.

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