ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.7586del (p.Pro2529fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CGC Genetics, Unilabs RCV004765449 SCV005374868 likely pathogenic Neurofibromatosis, type 1 2024-04-03 no assertion criteria provided clinical testing The variant NM_000267.3:c.7523del p.(Pro2508Leufs*19), detected in heterozygosity, has not been described in the literature, nor is it reported in the gnomAD database at the time of this submission. It is a frameshift variant that introduces a premature stop codon, which in turn is predicted to lead to the creation of a truncated protein and/or a reduction in its expression due to mRNA degradation. With the information currently available, this should be classified as a probably pathogenic variant. ACMG codes: PVS1; PM2_supporting.

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