ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.6540del (p.Ser2181fs)

dbSNP: rs1597843853
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000816999 SCV000957535 pathogenic Neurofibromatosis, type 1 2023-02-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser2160Valfs*19) 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-1 (PMID: 26740943). ClinVar contains an entry for this variant (Variation ID: 659910). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Mendelics RCV000816999 SCV001140389 pathogenic Neurofibromatosis, type 1 2019-05-28 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000816999 SCV002560187 pathogenic Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002352436 SCV002654765 pathogenic Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2018-03-09 criteria provided, single submitter clinical testing The c.6477delC pathogenic mutation, located in coding exon 42 of the NF1 gene, results from a deletion of one nucleotide at nucleotide position 6477, causing a translational frameshift with a predicted alternate stop codon (p.S2160Vfs*19). This alteration was identified in an individual displaying clinical characteristics of neurofibromatosis 1 (NF1), however specific clinical information was not available (Bianchessi D et al. Mol Genet Genomic Med, 2015 Nov;3:513-25). In additiona to the clinical data presented, 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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