ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.3206_3207dup (p.Gln1070fs)

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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 RCV004774290 SCV005382831 likely pathogenic Neurofibromatosis, type 1 2024-10-30 no assertion criteria provided clinical testing The variant NM_000267.3:c.3206_3207dup p.(Gln1070Thrfs*8), detected in heterozygosity in the NF1 gene, has not been described in the literature nor in the gnomAD population database at the time of this submission. This variant results in a frameshift and the introduction of a premature stop codon, which is expected to produce a truncated protein and/or its loss of expression due to mRNA degradation. With the information currently available, this variant should be classified as probably pathogenic with the following ACMG codes: PVS1; PM2_supporting.

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