ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.2851-6_2851-3del (rs1597716256)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000802183 SCV000942001 uncertain significance Neurofibromatosis, type 1 2019-10-31 criteria provided, single submitter clinical testing This sequence change falls in intron 21 of the NF1 gene. It does not directly change the encoded amino acid sequence of the NF1 protein. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with neurofibromatosis type 1 (PMID: 10862084, 27838393). This variant is also known as IVS16-6del4 and c.2851-6_2851-3del4 in the literature. Experimental studies have shown that this intronic change causes skipping of exon 22 (exon 17 in the paper) and an out-of-frame transcript in patient-derived RNA (PMID: 23913538). However, the clinical significance of these findings is uncertain. 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.
Medical Genomics Laboratory,Department of Genetics UAB RCV000802183 SCV001167406 pathogenic Neurofibromatosis, type 1 2020-01-20 criteria provided, single submitter clinical testing
Division of Human Genetics,Medical University Innsbruck RCV000802183 SCV001250658 pathogenic Neurofibromatosis, type 1 2020-01-20 criteria provided, single submitter clinical testing

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