ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.4577+2T>G

dbSNP: rs1597747184
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001071581 SCV001236891 pathogenic Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 864398). Disruption of this splice site has been observed in individuals with neurofibromatosis type 1 (PMID: 10712197; Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change affects a donor splice site in intron 33 of the NF1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in NF1 are known to be pathogenic (PMID: 10712197, 23913538).
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology RCV001071581 SCV004801868 likely pathogenic Neurofibromatosis, type 1 criteria provided, single submitter clinical testing A previously undescribed nucleotide variant creates an alteration of the canonical splice site c.4577+2T>G in the NF1 gene. The variant was observed in heterozygous state in an individual affected with neurofibromatosis. Loss-of-function variants are reported in patients with Neurofibromatosis, type 1, 162200. The variant is not present in population database (gnomAD no frequency). 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.
Laboratory for Genotyping Development, RIKEN RCV003160590 SCV002758182 pathogenic Gastric cancer 2021-07-01 no assertion criteria provided research

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