ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.2034del (p.Ile679fs)

dbSNP: rs1567847384
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000697005 SCV000825593 pathogenic Neurofibromatosis, type 1 2023-10-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ile679Phefs*9) 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 variant has not been reported in the literature in individuals affected with NF1-related conditions. ClinVar contains an entry for this variant (Variation ID: 574937). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV002422535 SCV002718735 pathogenic Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2020-12-14 criteria provided, single submitter clinical testing The c.2034delG pathogenic mutation, located in coding exon 18 of the NF1 gene, results from a deletion of one nucleotide at nucleotide position 2034, causing a translational frameshift with a predicted alternate stop codon (p.I679Ffs*9). 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.

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