ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.6147+5T>A

dbSNP: rs1597842332
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000793496 SCV000932850 uncertain significance Neurofibromatosis, type 1 2025-01-12 criteria provided, single submitter clinical testing This sequence change falls in intron 40 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 has not been reported in the literature in individuals affected with NF1-related conditions. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). RNA analysis performed to evaluate the impact of this variant on mRNA splicing indicates it does not significantly alter splicing (internal data). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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