ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.6462dup (p.Glu2155fs)

dbSNP: rs1135402888
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000497056 SCV000628714 pathogenic Neurofibromatosis, type 1 2022-04-05 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 431673). This premature translational stop signal has been observed in individual(s) with clinical features of neurofibromatosis type-1 (Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu2134Argfs*14) 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).
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000497056 SCV000782074 likely pathogenic Neurofibromatosis, type 1 2016-11-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002356815 SCV001187363 pathogenic Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2019-06-24 criteria provided, single submitter clinical testing The c.6399dupA pathogenic mutation, located in coding exon 42 of the NF1 gene, results from a duplication of A at nucleotide position 6399, causing a translational frameshift with a predicted alternate stop codon (p.E2134Rfs*14). This alteration was reported in a cohort of Italian neurofibromatosis type 1 (NF1) patients (Bonatti F et al. Int J Mol Sci. 2017 Sep;18:). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Genome-Nilou Lab RCV000497056 SCV002560184 likely pathogenic Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
GeneDx RCV003327407 SCV004034864 pathogenic not provided 2023-03-09 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 23913538, 28961165, 10712197)
Medical Genetics, University of Parma RCV000497056 SCV000588818 pathogenic Neurofibromatosis, type 1 2017-02-02 no assertion criteria provided clinical testing

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