ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.6705-17G>A

dbSNP: rs1064795966
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000480830 SCV000572283 uncertain significance not provided 2016-11-10 criteria provided, single submitter clinical testing This variant is denoted NF1 c.6642-17G>A or IVS43-17G>A and consists of a G>A nucleotide substitution at the -17 position of intron 43 of the NF1 gene. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. In silico models are uninformative, and in the absence of RNA or functional studies, the actual effect of this variant is unknown. NF1 c.6642-17G>A was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, suggesting it is not a common benign variant in these populations. The guanine (G) nucleotide that is altered is not conserved across species. Based on currently available information, it is unclear whether NF1 c.6642-17G>A is pathogenic or benign. We consider it to be a variant of uncertain significance.
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000660102 SCV000782083 likely pathogenic Neurofibromatosis, type 1 2016-11-01 criteria provided, single submitter clinical testing
Medical Genomics Laboratory, Department of Genetics UAB RCV000660102 SCV001167393 pathogenic Neurofibromatosis, type 1 2020-01-20 criteria provided, single submitter clinical testing
Institute of Human Genetics, Medical University Innsbruck RCV000660102 SCV001250657 pathogenic Neurofibromatosis, type 1 2020-01-20 criteria provided, single submitter clinical testing
Invitae RCV000660102 SCV003471669 uncertain significance Neurofibromatosis, type 1 2023-06-30 criteria provided, single submitter clinical testing 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. Studies have shown that this variant is associated with altered splicing resulting in unknown protein product impact (PMID: 32126153). ClinVar contains an entry for this variant (Variation ID: 422739). This variant has been observed in individual(s) with clinical features of neurofibromatosis, type 1 (PMID: 32126153). This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 43 of the NF1 gene. It does not directly change the encoded amino acid sequence of the NF1 protein.

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