ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.4578-20_4578-18del

dbSNP: rs1597748617
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Medical Genomics Laboratory, Department of Genetics UAB RCV001007733 SCV001167407 pathogenic Neurofibromatosis, type 1 2020-01-20 criteria provided, single submitter clinical testing
Invitae RCV001007733 SCV002143932 pathogenic Neurofibromatosis, type 1 2021-12-02 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Studies have shown that this variant results in use of a cryptic splice site and introduces a premature termination codon (PMID: 28891274, 32126153). The resulting mRNA is expected to undergo nonsense-mediated decay. ClinVar contains an entry for this variant (Variation ID: 816747). This variant has been observed in individual(s) with neurofibromatosis type 1 (PMID: 28891274, 32126153; Invitae). 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.
Genome-Nilou Lab RCV001007733 SCV002560068 likely pathogenic Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing

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