ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.4578-9T>A

dbSNP: rs2067688959
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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 RCV001353276 SCV001556156 pathogenic Neurofibromatosis, type 1 2023-07-06 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Studies have shown that this variant results in activation of a cryptic splice site and introduces a premature termination codon (Invitae). The resulting mRNA is expected to undergo nonsense-mediated decay. ClinVar contains an entry for this variant (Variation ID: 1048689). This variant is also known as c.4578-9T>A. This variant has been observed in individual(s) with clinical features of neurofibromatosis type 1 (PMID: 30308447). This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 33 of the NF1 gene. It does not directly change the encoded amino acid sequence of the NF1 protein. RNA analysis indicates that this variant induces altered splicing and may result in an absent or disrupted protein product.
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV001353276 SCV001548400 uncertain significance Neurofibromatosis, type 1 2018-01-01 no assertion criteria provided clinical testing

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