ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.4208del (p.Gly1403fs)

dbSNP: rs2067621019
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001290795 SCV001478951 likely pathogenic Neurofibromatosis, type 1 2020-10-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV002327629 SCV002627388 pathogenic Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2022-05-13 criteria provided, single submitter clinical testing The c.4145delG pathogenic mutation, located in coding exon 31 of the NF1 gene, results from a deletion of one nucleotide at nucleotide position 4145, causing a translational frameshift with a predicted alternate stop codon (p.G1382Vfs*3). 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001290795 SCV005843697 pathogenic Neurofibromatosis, type 1 2024-12-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly1382Valfs*3) 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: 996391). For these reasons, this variant has been classified as Pathogenic.

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