ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.5907_5908del (p.Arg1970fs)

dbSNP: rs863224835
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000200729 SCV000255281 pathogenic Neurofibromatosis, type 1 2023-12-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg1949Serfs*6) in the NF1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in NF1 are known to be pathogenic (PMID: 10712197, 23913538). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with neurofibromatosis type I (PMID: 8069310, 16835897). In at least one individual the variant was observed to be de novo. This variant is also known as 5843delAA. ClinVar contains an entry for this variant (Variation ID: 216865). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV000492418 SCV000581252 pathogenic Hereditary cancer-predisposing syndrome 2014-08-12 criteria provided, single submitter clinical testing The c.5907_5908delAA variant, located in coding exon 40 of the NF1 gene, results from a deletion of two nucleotides between nucleotide positions 5907 and 5908, causing a translational frameshift with a predicted alternate stop codon. This mutation was confirmed de novo in one individual who was affected with NF1 (<span style="background-color: initial;">Valero MC, et al. Hum. Mol. Genet. 1994 Apr; 3(4):639-41).<span style="background-color: initial;">In addition to the clinical data presented in the literature, since frameshifts are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294).
Medical Genetics, University of Parma RCV000200729 SCV000588810 pathogenic Neurofibromatosis, type 1 2019-12-20 criteria provided, single submitter clinical testing
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital RCV000200729 SCV000925588 pathogenic Neurofibromatosis, type 1 2019-06-25 criteria provided, single submitter clinical testing
3billion RCV000200729 SCV002521757 pathogenic Neurofibromatosis, type 1 2022-05-22 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. Frameshift: predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant. The variant has been reported at least twice as pathogenic with clinical assertions and evidence for the classification (ClinVar ID: VCV000216865 / PMID: 8069310). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline.
Genome-Nilou Lab RCV000200729 SCV002560159 pathogenic Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing

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