ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.5609+5G>C

dbSNP: rs1597832498
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001232758 SCV001405326 likely pathogenic Neurofibromatosis, type 1 2025-01-19 criteria provided, single submitter clinical testing This sequence change falls in intron 37 of the NF1 gene. It does not directly change the encoded amino acid sequence of the NF1 protein. It affects a nucleotide within the consensus splice site. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with neurofibromatosis type 1 (PMID: 16835897). ClinVar contains an entry for this variant (Variation ID: 959407). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This variant disrupts the c.5546+5G nucleotide in the NF1 gene. Other variant(s) that disrupt this nucleotide have been determined to be pathogenic (PMID: 16944272, 19292874, 29673180). This suggests that this nucleotide is clinically significant, and that variants that disrupt this position are likely to be disease-causing. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
NHS Central & South Genomic Laboratory Hub RCV001232758 SCV005393946 likely pathogenic Neurofibromatosis, type 1 2024-11-11 criteria provided, single submitter clinical testing

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